What are the main symptoms of classical cystic fibrosis?

Cystic fibrosis (CF) is a chronic genetic condition involving multiple organ systems. Classical CF primarily involves the respiratory and digestive systems, and may have a range of clinical severity. Pulmonary symptoms often include lower airway inflammation, chronic cough, chronic sinusitis, and recurrent infections. Digestive symptoms often include meconium ileus, pancreatic insufficiency resulting in malabsorption and/or failure to thrive, diabetes mellitus, and hepatobiliary disease. Congenital bilateral absence of the vas deferens (CBAVD) is seen in men without pulmonary or digestive symptoms of CF, and results in azoospermia . CBAVD is a significant cause of male infertility.
CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Individuals with mutations in the CFTR gene may also present with milder or atypical symptoms such as pancreatitis or chronic sinusitis.
The incidence of CF is approximately 1 in 2500 live births among Caucasians and is inherited in an autosomal recessive pattern. The carrier frequency is estimated to be approximately 1 in 25 in the Caucasian population, 1 in 24 in the Ashkenazi Jewish population, 1 in 61 in the African American population, 1 in 58 in the Hispanic population and 1 in 94 in the Asian population.
The current recommendation from the American College of Obstetrics and Gynecologists [2, 3] and the American College of Medical Genetics Subcommittee on Cystic Fibrosis  is that screening for cystic fibrosis be offered to all patients, regardless of ethnicity, by a minimum panel of 23 common mutations .
This test offers an expanded panel of 142 mutations to account for mutations more common in non-Caucasian ethnic groups, as well as rarer mutations across all ethnic groups.
Click here for a complete list of CFTR mutations.
For those providers wishing to order only the ACOG/ACMG recommended 39-mutation panel, see test code CF.
Visit www.ThinkGenetic.com for patient-friendly information on cystic fibrosis.
1. Xu et al. Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility (2007). PNAS. 104(23):9816-21.
2. ACOG Committee Opinion.

Symptoms of Cystic Fibrosis
- Frequent lung infections
- Chronic and persistent cough, sometimes producing phlegm
- Shortness of breath, wheezing
- Poor growth and weight gain
- Frequent slimy, large stools or difficulties with bowel movements
- Salty-tasting skin
Outlook for Children with Cystic Fibrosis
Thanks to advancements in both genetics and pharmacology, children with CF can live longer and more comfortable lives. Scientists have spent the past 10 years researching cystic fibrosis. Because of their work, doctors have a better understanding of the disease, allowing them develop new treatments. While children with CF were once condemned to live short lives, usually not making it past the 20 or 30-year-old mark, recent discoveries have lengthened life expectancy to 50 years. There is still hope that researchers may one day find a cure.
Lactose intolerance is a condition in which children cannot properly digest lactose. Lactose is a sugar found in dairy products such as milk, soft cheeses and ice cream. Children who suffer from lactose intolerance are unable to make enough of an enzyme known as lactase. This enzyme is normally produced by the intestines and is necessary for digestion. Without sufficient lactase, any undigested lactose remains in the intestines and results in the symptoms commonly associated with the disorder.
Because the symptoms of lactose intolerance are similar as those caused by a variety of digestive problems, diagnosing children with the condition may prove tricky. The first step in evaluating whether a child is lactose intolerant involves gradually removing dairy products from their diet for several weeks to see if their symptoms improve. The next step is to talk with the child’s pediatrician and request that they perform what is called a “lactose breath test.” During this test, a lactose solution is ingested so that the subsequent hydrogen levels in the child’s breath can be measured. As undigested lactose remains in the intestinal tract and ferments, producing hydrogen to be exhaled; thanks to this process, doctors are able to accurately test for lactose intolerance.
Symptoms of Lactose Intolerance in Children
Symptoms typically appear anywhere from 30 minutes to two hours after consuming foods that contain lactose. Common symptoms include
- Stomach cramps
Treatment for Lactose Intolerance
Unfortunately, there is no remedy for lactose intolerance.

The most common symptoms include:
- Frequent coughing that brings up thick sputum, or phlegm (flem).
- Frequent bouts of bronchitis and pneumonia. They can lead to inflammation and permanent lung damage.
- Salty-tasting skin.
- Infertility (mostly in men).
- Ongoing diarrhea or bulky, foul-smelling, and greasy stools.
- Huge appetite but poor weight gain and growth. This is called "failure to thrive." It is a result of chronic malnutrition because you do not get enough nutrients from your food.
- Stomach pain and discomfort caused by too much gas in your intestines.
CF can also lead to other medical problems, including:
- Sinusitis » The sinuses are air-filled spaces behind your eyes, nose, and forehead. They produce mucus and help keep the lining of your nose moist. When the sinuses become swollen, they get blocked with mucus and can become infected. Most people with CF develop sinusitis.
- Bronchiectasis » Bronchiectasis is a lung disease in which the bronchial tubes, or large airways in your lungs, become stretched out and flabby over time and form pockets where mucus collects. The mucus provides a breeding ground for bacteria. This leads to repeated lung infections. Each infection does more damage to the bronchial tubes. If not treated, bronchiectasis can lead to serious illness, including respiratory failure.
- Pancreatitis » Pancreatitis is inflammation in the pancreas that causes pain.
- Episodes of intestinal blockage, especially in newborns.
- Nasal polyps » Growths in your nose that may require surgery.
- Clubbing » Clubbing is the widening and rounding of the tips of your fingers and toes. It develops because your lungs are not moving enough oxygen into your blood stream.
- Collapsed lung » This is also called pneumothorax.
- Rectal prolapse » Frequent coughing or problems passing stools may cause rectal tissue from inside you to move out of your rectum.
- Liver disease » Due to inflammation or blocked bile ducts.
- Low bone density » Because you do not get enough Vitamin D.
There still is no cure for cystic fibrosis (CF), but treatments have improved greatly in recent years. The goals of CF treatment are to:
- Prevent and control infections in your lungs.

About Cystic Fibrosis
What is Cystic Fibrosis?
Cystic fibrosis is a genetic disease that affects over 70,000 people worldwide.
In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.
Symptoms of CF
People with CF can have a variety of symptoms, including:
- Very salty-tasting skin
- Persistent coughing, at times with phlegm
- Frequent lung infections including pneumonia or bronchitis
- Wheezing or shortness of breath
- Poor growth or weight gain
- Frequent greasy, bulky stools or difficulty with bowel movements
- Male infertility
Diagnosis and Genetics
Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene — one copy from each parent.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:
- 25 percent (1 in 4) the child will have CF
- 50 percent (1 in 2) the child will be a carrier but will not have CF
- 25 percent (1 in 4) the child will not be a carrier and will not have CF
The defective CF gene contains an abnormality called a mutation. There are more than 2000 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Read more about diagnosis.
According to the Cystic Fibrosis Foundation Patient Registry, in the United States:
- More than 30,000 people are living with cystic fibrosis (more than 70,000 worldwide).
- Approximately 1,000 new cases of CF are diagnosed each year.
- More than 75 percent of people with CF are diagnosed by age 2.
- More than half of the CF population is age 18 or older.

What is cystic fibrosis?
Cystic fibrosis (CF) is a life-threatening genetic disease. A child with CF has a faulty gene that affects the movement of sodium chloride (salt) in and out of certain cells.
The result is thick, heavy, sticky mucus; salty sweat; and thickened digestive juices. The thick mucus secretions can clog the lungs, making a child with CF very prone to breathing difficulties, lung infections (the mucus provides a rich environment for bacteria), and, eventually, severe lung damage. And when thickened digestive fluids from the child's pancreas can't get to the small intestine to break down and absorb nutrients from the food he eats, he may also have digestive and growth problems.
What are the signs and symptoms of cystic fibrosis in children?
Poor growth is one of the first signs of CF. Parents may also notice a nagging cough and wheezing. Coughing and wheezing are hardly unique to children with CF, of course. These symptoms could be caused by viral bronchiolitis (an inflammation of the small breathing tubes), asthma, or even a dusty, smoky environment. Each of these conditions is far more common than any genetic disease.
Still, cystic fibrosis is the most common life-shortening genetic disease among people of Northern European descent. Other symptoms include salty skin, a big appetite with no weight gain, and large, greasy stools.
Sometimes the condition doesn't become apparent until a child has had a series of repeated lung infections or severe growth problems. If your child has any of these symptoms, talk with her doctor.
Cystic fibrosis can't be cured, but there are new treatments that can not only prolong a child's life but may also help make that life more normal. And the earlier cystic fibrosis is diagnosed, the more effective those therapies will be.
How common is cystic fibrosis?
The chances of your child having CF are about 1 in 3,000 if your child is Caucasian, 1 in 9,000 if he's Hispanic, 1 in 11,000 if he's Native American, 1 in 15,000 if he's of African heritage, and 1 in 30,000 if he's Asian American.
Children get cystic fibrosis when they inherit one defective CF gene from their mother and another from their father.

Cystic fibrosis is a genetic condition that affects the production and flow of mucus in the respiratory and digestive system. The lungs and intestine become clogged up with a thick, sticky mucus which causes symptoms such as a persistent cough and recurrent infections.
The symptoms of this incurable condition usually manifest within the first year of life, although they can develop later. Recurrent infections and malnutrition often affect growth and the lifespan is significantly shortened. Symptoms vary in intensity and severity from person to person and are managed using physiotherapy, physical therapy and nutritional therapy.
Cystic fibrosis can be a difficult condition for a patient and their family members to cope with. Education and support groups are available to help patients and families manage the emotional repercussions of living with the disease as well as helping patients to lead a life that is as full and active as possible. Educational programs and materials are tailored to suit patients of different age groups as well as their caregivers and members of family.
Patients and their families are also provided with genetic counselling to help them understand the genetic basis of cystic fibrosis, which can be particularly helpful to parents who may be struggling to come to terms with how their child has become ill. Individuals are also educated about the nontransmissible nature of the disease. In addition, the patient’s family members are encouraged to undergo genetic testing to find out whether or not they are carriers of the condition.
Parents and caregivers are educated with regard to helping the patient grow and develop as normally as possible in both a physical and emotional sense as well as helping the patient take care of themselves and live independently.
Patients and their families need to understand the importance of attending clinical follow up appointments and receiving routine vaccinations, chest physiotherapy and nutritional support. Life expectancy among individuals with this condition is increased with better nutrition and improved lung function.
Another complication of cystic fibrosis is infertility. Malnutrition leads to delayed puberty, hormonal imbalances and infertility. In men, the tubes that carry sperm do not develop normally. In women, the cervical mucus is thicker and more difficult for sperm to penetrate.

Symptoms Cystic fibrosis
Cystic fibrosis is a genetic disease that affects cells that secrete mucus, sweat, and digestive juices.
In normal cases, the fluid being secreted is thin and slippery, but in the case of cystic, a defective gene causes the secretions to become thick and sticky.
So, instead of these moisturizing secretions, they block the tubes, ducts and pathways, especially in the lungs and pancreas.
Symptoms of cystic fibrosis
Cystic fibrosis symptoms and symptoms vary, depending on the severity of the disease, symptoms may improve or worsen over time in the same person.
In some children, symptoms begin to appear during infancy and others may not experience symptoms until adolescence or puberty.
Salt in sweat is usually higher than normal in cystic .
Parents often feel the salt taste when kissing their children.
Most signs of cystic and other symptoms affect the respiratory system or the digestive system.
Signs and symptoms of respiratory
The thick, viscous mucus associated with cystic fibrosis blocks the ducts that carry air from and to the lungs. This can cause:
Persistent cough that produces thick sputum (mucus) and mucus.
Weakness of the ability to exercise sports.
Recurrent infection of the lungs.
Sinusitis or nasal obstruction.
Signs and symptoms of gastrointestinal tract
Thick mucus can also block channels that carry digestive enzymes from the pancreas to the small intestine.
Without these digestive enzymes, the intestines will not be able to absorb the nutrients in the food you eat. This often results in:
Underweight and underweight
Bowel obstruction, especially in newborns (cystic obstruction)
Frequent stress during stool removal may result in the emergence of part of the rectum, the end of the large intestine, outside the anus (rectal prolapse).
When this happens in children, it may be a sign of cystic, so parents should consult an expert doctor on cystic fibrosis.
Pediatric rectal incontinence may require surgery.
When should I visit a doctor?
Talk to your doctor if your child has the following:
Persistent cough that produces mucus
Frequent infections of the lungs or sinuses
Frequent smelly greasy stools
Drop the rectum
If your child has trouble breathing, seek immediate medical attention.

Cystic fibrosis (CF) is a genetic mutation that disrupts the cystic fibrosis transmembrane regulator (CFTR) protein, resulting in poorly hydrated, thickened mucous secretions in the lungs, pancreas, liver, intestines, sinuses, and sex organs. Or to put that in English. Mucus is normally watery. It keeps the linings of the organs listed above moist and prevents them from drying out or getting infected. But in CF, an abnormal gene causes mucus to become thick and sticky.
This thick, sticky mucus builds up in your lungs and blocks the airways. This makes it easy for bacteria to grow and leads to repeated serious lung infections. Over time, these infections can cause serious damage to your lungs. This thickened, sticky mucus can also block tubes and ducts in your organs, compromising their ability to function.
Medical treatment will often involve antibiotics to deal with infection, mucus thinners, and bronchial dilators -- all of which have side effects.
What you can do about cystic fibrosis
Let's be clear here. As a progressive, inherited condition, there is no treatment (alternative or otherwise) that is going to make cystic fibrosis go away. It's all a question of managing symptoms. And here, there are alternatives that may indeed work as well (or better in some cases) than traditional medications, and with far fewer side effects. We're talking about:
- Proteolytic enzymes to thin the mucus, kill bacteria and viruses, and reduce inflammation in the bronchial passages.
- Immune enhancers
- Pathogen destroyers
- Digestive enzymes to improve nutrition absorption in the intestinal tract -- an important issue since in CF, digestive enzymes are often blocked from leaving the pancreas by the thickened mucus.
- A syrup made from elecampane root to help clear mucus from the lungs.
Pulmonary fibrosis literally refers to scarring (fibrosis) throughout the lungs. Pulmonary fibrosis can be caused by many conditions including chronic inflammatory processes, chronic conditions such as lupus and rheumatoid arthritis, infections, environmental agents such as asbestos and silica, and as a side effect of radiation therapy used to treat tumors of the chest, and even certain medications.
Medical treatment options for pulmonary fibrosis are very limited.

Cystic fibrosis is a genetic disease in which a mutation causes bodily secretions, such as mucus, digestive juices and sweat, to have a thick, sticky consistency rather than a thinner, more slippery quality, explains Mayo Clinic. In healthy individuals, these secretions serve as a lubricant for the lungs and digestive system. In patients with cystic fibrosis, these secretions instead clog up important passageways in the lungs and pancreas.Continue Reading
Individuals with cystic fibrosis often experience breathing difficulties due to the thick, sticky mucus blocking their airways, notes the National Heart, Lung and Blood Institute. They are prone to lung infections, as bacteria can grow easily in areas of mucus buildup. These infections cause damage to the lung tissue over time, and the leading cause of death among cystic fibrosis patients is respiratory failure. Doctors sometimes prescribe pulmonary rehabilitation therapy in attempt to improve breathing quality.
Cystic fibrosis patients also have sweat that contains an unusually high salt content, states the NHLBI. This can cause patients to develop mineral imbalances when they sweat. Additionally, a buildup of mucus in the digestive system makes it more difficult for enzymes that help digest food to travel to the small intestine. As a result, cystic fibrosis patients are at an increased risk of vitamin deficiencies, malnutrition, constipation, gas and abdominal swelling.Learn more about Conditions & Diseases

Almost everyone has gotten a cold and learned how it can cause difficulties in breathing. The body makes a great amount of mucus to flush dust and germs out of the lungs. For most of us, a cold is only uncomfortable for a short time, but for those with cystic fibrosis, it is a daily struggle to breath. The mucus caused by cystic fibrosis is thick and sticky. “If you have cystic fibrosis, your mucus becomes thick and sticky. It builds up in your lungs and block your airways. builds up and causes problems in many of the body’s organs, especially the lungs and the pancreas.” According to the National Institutes of Health, National Heart, Lung and Blood Institute, “the build up of mucus makes it easy for bacteria to grow.” Not only does this build up lead to lung infections, if can also lead to digestive issues (malnutrition) because the mucus can block the ducts of the pancreas which creates enzymes that help food digest int he intestines.
The Cause and Diagnosis
Cystic fibrosis is an inherited disease. Both parents must be carriers of the faulty gene for the child to develop cystic fibrosis. All states test for cystic fibrosis during newborn screenings. The screening includes a type of blood test which looks for the gene associated with cystic fibrosis (the CFTR gene). That blood test also demonstrates whether the infant’s pancreas is working properly. If the blood test indicates the presence of cystic fibrosis, the physician may order a sweat test to confirm the diagnosis of cystic fibrosis. Other tests my include a chest x-ray; a lung function test and or a sputum culture.
(See What is Cystic Fibrosis? by the National Institutes of Health for an overview.)
Even though there is no cure for cystic fibrosis, there are a number of treatments which can lessen the symptoms. These treatments include pulmonary rehabilitation, exercise, different medicines, oxygen therapy and nutritional therapy. Because cystic fibrosis can also cause a special kind of diabetes, that will be treated too.
Social Security Disability
The Commissioner of Social Security has “listed” cystic fibrosis as a disease which can cause disability.

What Is Cystic Fibrosis? This Genetic Disease Affects Every System In the Body
The life-threatening disorder causes shortness of breath, a persistent cough, and digestion issues.
Cystic fibrosis (CF) is a complex, life-threatening disease that affects many organs in the body, including the lungs, kidneys, and gastrointestinal tract. It’s caused by a genetic mutation that causes a certain protein to stop working. When this happens, chloride—a mineral that’s vital to cellular hydration—can’t move to the surface of cells, prompting mucus to become thick and sticky in a variety of organs.
“The predominant way CF affects the body is in the gastrointestinal and respiratory system, but it causes a wide variety of complications that affects every system in the body,” Zubin Mukadam, MD, assistant professor of pulmonary and critical care at Wayne State University and Detroit Medical Center, tells Health.
In the lungs of a CF patient, mucus becomes clogged in the airways and bacteria and other germs can get trapped. In the pancreas, mucus buildup prevents the release of digestive enzymes that help the body absorb food and nutrients, resulting in malnutrition. In the liver, thick mucus can block the bile duct, causing liver disease. And in men, CF can affect the ability to have children, according to the Cystic Fibrosis Foundation.
RELATED: Signs and Symptoms of Pneumonia
“When a channel to certain organs, specifically the lungs, become dehydrated, this can lead to chronic inflammation and chronic infection,” Don Hayes, Jr., MD, medical director of lung and heart-lung transplant programs for Nationwide Children’s Hospital and The Ohio State University Wexner Medical Center, tells Health. “This is why CF is a progressive disease that causes persistent lung infections and limits the ability to breathe over time.”
Cystic fibrosis and the family tree
More than 30,000 people are living with CF in the United States, according to the Cystic Fibrosis Foundation, and more than 75% are diagnosed by age 2.
“We do a lot of newborn screening,” says Dr. Mukadam.

Cystic fibrosis is an inherited sickness that creates serious injury to the lungs, digestive system, and other organs in the body. Cystic fibrosis targets the cells that generate mucus, sweat, and digestive juices. These secreted fluids are usually thin and slippery. In people with cystic fibrosis, a dispute gene makes the secretions to become sticky and thick. In spite of working as a lubricant, the secretions plug up tubes, ducts, and passageways, specifically in the lungs and pancreas. Although cystic fibrosis needs regular care, people with the situation are generally able to join school and work, and sometimes have a better quality of life than people with cystic fibrosis had in earlier decades. Improvements in screening and treatments mean people suffering from cystic fibrosis now may live in their mid- the too late 30s, on average, and some are living in between 40s and 50s.
Symptoms of Cystic Fibrosis
Screening of newborns for cystic fibrosis symptoms is now done in each state in the United States. As a result, the situation can be diagnosed within the first month of life, before symptoms of cystic fibrosis promote. For people born before newborn screening was done, it is significant to be conscious of the signs and symptoms of cystic fibrosis.
Cystic fibrosis symptoms differ, based on the depth of the disease. Even in the same person, symptoms of cystic fibrosis may worsen or improve as time passes. Some people may not feel symptoms until adulthood.
People with cystic fibrosis have a higher than usual level of salt in their sweat. Parents sometimes can taste salty when they kiss their children. Most of the other signs and symptoms of cystic fibrosis target the respiratory system and the digestive system. However, adults diagnosed with cystic fibrosis are more likely to have atypical symptoms, like recurring bouts of pancreatitis, infertility and recurring pneumonia disease.
Cystic Fibrosis Causes
Causes of cystic fibrosis, a fault in a gene changes a protein that circulates the movement of salt in and out of cells. The outcome is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as developed salt in sweat. Many various disputes can happen in the gene. The type of gene mutation is related to the severity of the situation.

For patients who have cystic fibrosis, it’s important to understand that this medical condition is inherited and it causes serious damages to the digestive system and lungs. Besides, it affects those cells that produce sweat, mucus, and digestive juices, which are the fluids that are slippery and thin normally. Defective genes cause this kind of secretion to become sticky and thick so that it plugs up ducts, tubes, and passageways instead of acting as a lubricant, especially when it comes to lungs and pancreas.
Although this disease requires daily care, people with cystic fibrosis can attend work and school while having a decent quality of life. Think about certain improvements in treating and screening because they allow patients to live up to their 50s. The good news is that the screening of all newborn babies for cystic fibrosis is performed in all states so that this medical condition is easy to diagnose at the very beginning, even before any dangerous symptoms develop.
It’s important to know the symptoms and signs of cystic fibrosis, but you should understand that they may vary considerably based on its severity. Even in the same patient, symptoms may both improve and worsen, while some people may not have any symptoms until their adulthood or adolescence at all. For example, those patients who have cystic fibrosis have a high level of salt in their sweat, and other widespread symptoms usually affect their digestive and respiratory systems. Keep in mind that adult patients are more likely to develop special atypical symptoms, including diabetes, pancreatitis, infertility, and others.
When it comes to respiratory symptoms and signs, they include wheezing, exercise tolerance, breathlessness, persistent coughing, regular lung infections, sticky and thick mucus, inflamed nasal passages, etc. Don’t forget about important digestive symptoms and signs that include greasy and foul-smelling stools, severe constipation, intestinal blockage, and others.
It’s necessary for patients to know when to see their doctors. Once you notice any of the above-mentioned symptoms, you need to go to the hospital to be properly examined and diagnosed. In conclusion, there are different defects that may occur in genes, and everything depends on the severity of this health condition. People need to inherit one copy of the defected gene from every parent to develop this disease. If they have only one copy, they will be carriers.

Cystic fibrosis is a serious, heritable disorder that results in the buildup of a thick mucus around several organs including the lungs. Cystic fibrosis is caused by mutations in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes for a protein responsible for transporting salts in and out of cells. The mutations cause the transport protein to be made incorrectly (or not at all).
People who have a single copy of a disease-causing mutation are considered carriers of the disease; they most likely will not develop symptoms, but may pass the disease-causing mutation to their children. Children who inherit two copies of disease-causing mutations will develop cystic fibrosis.
While there is no cure for cystic fibrosis, there are treatments available that can ease the symptoms. Quality of life is significantly better for patients who receive early care, so early diagnosis is very important.
What is a newborn screen?
In the U.S., Canada, Australia, and in most of Europe, newborn infants are tested for a variety of health conditions before leaving the hospital. One of the diseases tested for is cystic fibrosis.
How is a newborn screen performed?
In the first 24 to 48 hours after birth, a few drops of blood from the infant is collected with a heel prick (a quick jab with a small needle in the baby’s heel). The blood is placed on a card and is analyzed to determine how much immunoreactive trypsinogen (IRT) — a protein commonly elevated in cystic fibrosis — is present. A positive test does not mean the baby has cystic fibrosis as there are several conditions that can cause elevated levels of this protein.
If the first test is positive, the IRT test is repeated three weeks after birth. If the levels of IRT are normal, the infant may be a carrier of cystic fibrosis (meaning they have a single copy of a CFTR mutation), but probably does not have the disease.
If the second test is also positive, it may mean the infant will develop cystic fibrosis. The next step is a sweat test to determine whether they are secreting salts normally, or a genetic test to determine whether the child has mutations in the CFTR gene.
What happens next?

CF isn't a formation in your lungs that can be taken out. It is a genetic disease that for many affects the lungs, kidneys, pancreas, liver, etc. Does he have a history of allergies, asthma, pneumonia, bronchitas, etc? Most people who are diagnosed later in life usually exhibite some sort of symptoms throughout his or her life.
Cystic fibrosis (CF) is a common genetic disease which affects the entire body, causing progressive disability and early death. Shortness of breath is the most common symptom and results from frequent lung infections like pneumonia that are treated, though not always cured, by antibiotics and other medications. A multitude of other symptoms, including sinus infections, failure to thrive, diarrhea, and infertility, result from the effects of CF on other parts of the body.
CF is one of the most common fatal inherited diseases. It is most prevalent among Caucasians and Ashke**** Jews; one in 25 people of European descent carry one gene for CF. Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing or in early childhood by a sweat test. There is no cure for CF, and most individuals with cystic fibrosis die young — many in their 20s and 30s from lung failure. Ultimately, lung transplantation is often necessary as CF worsens.
With males who have CF, 95-98% of them are infertile and do not have a vas deferas, or it is blocked.
Here is a link that talks all about
Post Edited (Chaser) : 7/10/2006 6:09:16 PM (GMT-6)

Cystic Fibrosis Carrier Screening
What Is Cystic Fibrosis?
Cystic fibrosis (CF) is an inherited disease caused by a change (mutation) in the cystic fibrosis transmembrane regulator (CFTR) gene. It is a chronic, progressive disease that causes mucus to become thick and sticky. The mucus builds up and clogs passages in many of the body's organs, but mostly in the lungs and the pancreas. In the lungs, the mucus can cause serious breathing problems and lung disease. In the pancreas, the mucus can cause digestive problems and malnutrition, which can lead to problems with growth and development.
What Causes CF?
Cystic fibrosis (CF) is a genetic disorder. A child must inherit two defective CF genes (one defective gene from each parent) to have the disease.
A person who has inherited only one defective CF gene is a carrier of CF and does not have the disease but can pass it on to his or her children. This person can also pass on carrier status.
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For patients who have cystic fibrosis, it’s important to understand that this medical condition is inherited and it causes serious damages to the digestive system and lungs. Besides, it affects those cells that produce sweat, mucus, and digestive juices, which are the fluids that are slippery and thin normally.

What Causes Cystic Fibrosis?
It is a genetic disease. In other words, the most common cause of the disease is the mutation of the gene from both parents.
- Although it varies according to the affected organ, it may present with many findings.
- In early infancy, recurrent and treatment-resistant lower respiratory tract infections, cough, wheezing may occur.
- Patients may have difficulty in gaining weight, oily, smelly and frequent defecation, growth and developmental retardation.
- When they are kissed by their mother, it may be felt that they have excessive salty sweat.
- They may apply with loss of liquid and salt, weakness, loss of appetite and exhaustion, especially in hot weather.
- In older children, symptoms may include excessive sputum production, frequent lung infection, enlargement of the fingertips (clubbing), nasal polyps, recurrent attacks of sinusitis.
- Rarely, it may present with findings such as diabetes.
- Adulthood, delayed puberty, pancreatitis attacks, hepatic and pancreatic insufficiency can be seen in adulthood.
How is Cystic Fibrosis Diagnosed?
Complaints such as symptoms of cystic fibrosis can also be varied. Anaemia, elevation in liver function tests, impaired chlorine values and changes in blood gas, pulmonary as well as chest film findings are among the methods used for diagnosis of cystic fibrosis. The exact diagnosis is made by the presence of chlorine elevation in the sweat test. Values taken as a result of this test of 60 and above mean cystic fibrosis. At the same time, the cystic fibrosis gene mutation analysis structures can be determined by the type of mutation in which the disease occurs.
How is Cystic Fibrosis Treated?
Cystic fibrosis is treated with a combination of medication, physical therapy and exercise.
Drug: There are three main drugs used in the treatment of Cystic Fibrosis.
Bronchodilator drugs that keep the airway open, antibiotics fighting infections, steroids to alleviate inflammation. To help digestion, patients with Cystic Fibrosis need to take pancreatic enzymes with each meal.
Physiotherapy: Daily physical therapy is inevitable for clearing the mucus layer in the airways and minimizing infection. This physiotherapy can be administered by the parent or caregiver at home. When children are old enough, they can apply the necessary daily therapies themselves.

The clinical consequences include
- recurrent respiratory infection, inflammation, bronchial damage, bronchiectasis resulting ultimately in respiratory failure
- exocrine pancreatic dysfunction with approximately 85% of patients suffering from insufficiency in pancreatic enzyme production, malabsorption and, if not adequately controlled, malnutrition
- bowel obstruction with approximately 15% of infants suffering from meconium ileus at birth, and recurrent bowel blockages in older patients due to distal intestinal obstruction syndrome
- impaired glucose tolerance or CF related diabetes
- liver disease and portal hypertension
- reduced bone mineral density
- gut motility problems
- infertility in most males
- CF arthropathy
- behavioural and psychological problems as a result of severe life limiting disease
- reduced bone mineral density
Newborn screening for CF was introduced across the UK in October 2007. All infants born since this date are offered screening for CF on day 5 of life. There are best practice guidelines defining the protocol for screening and diagnosis, and guidelines for management of infants picked up through screening [5, 6]. The majority of CF diagnoses are made through this programme and should be confirmed by sweat test and/or genetic mutation analysis by 4 weeks of age. Early diagnosis through newborn screening has been shown to confer significant benefits, especially in terms of growth and nutrition [7, 8].
The majority of cases picked up through screening have typical CF; however, the nature of the screening programme will result in some cases where diagnosis is uncertain because of anomalies in the genotype, phenotype or sweat test result. These cases should still be managed in a CF specialist centre.
Some cases of CF will not be picked up through the screening programme, either because they were born before October 2007, were born outside of the UK, or missed the screening process. A clinical diagnosis will be made in these patients, confirmed through sweat test and genetic mutation analysis.
Chronic respiratory disease
The lungs are normal at birth but may become affected early in life [5, 6]. Due to the abnormal secretions there is obstruction of the small airways, with secondary infection and inflammation. Recurrent infection with organisms such as Staphylococcus aureus, Haemophilus influenzae and Pseudomonas sp. leads to damage of the bronchial wall, bronchiectasis and abscess formation.

Other symptoms are large, bulky stools from passing undigested food, pneumonia caused from bacteria in the lungs, and salty-tasting skin caused by a high concentration of sodium and chloride in the sweat glands.
“We’ve had several emergency room visits,” Buck said. “Hannah would get croup really bad to the point where she couldn’t breathe. When we would get to the ER, they would do an epinephrine breathing treatment, give her a steroid shot, and it would help.”
Last Memorial Day weekend, the Bucks took Hannah to the ER for breathing problems, and this time, the treatment didn’t help. Hannah was admitted for two days.
“The admission diagnosis was croup with underlying asthma,” Buck said. “Her physician is pretty thorough and very cautious, so when he discharged her he wanted her to see a pediatric pulmonologist, to make sure our treatment regime was appropriate.”
The appointment with the pulmonologist did not go the way Buck expected.
“We had a 10 o’clock appointment in Kalamazoo, and I assumed I’d be back at work by noon,” Buck said. “I was nave as to CF. He took the history, and some things I shared with him were classic signs and symptoms of CF. He sent us right away to Bronson Hospital for the sweat test, the definitive test for CF, and asked that we come back to his office. At 1 o’clock, they had the results and they were positive.
“It was devastating news, but we were lucky to find out,” Buck said. “A lot of people say it’s strange that she was six before she was diagnosed, but that happens often, that symptoms aren’t noticed until later.”
Brian and Sarah Moore found out there was a problem when Sarah was pregnant.
“There was some kind of anomaly on the ultrasound,” Sarah said. “We went to Bronson and they did special tests. The tests told us it could be three or four things. We knew (CF) was a possibility, but she wasn’t diagnosed until she was four months old.
“As soon as they diagnosed Hannah, she started taking enzyme pills with everything she eats which helps her body digest the food. We still battle the weight gain, but she’s holding her own.”
If undiagnosed, a number of things could happen.
“That sticky mucus harbors bacteria that can lead to a lung infection and inflammation,” Buck said.

- Loosen and remove the thick, sticky mucus from your lungs.
- Prevent blockages in your intestines.
- Provide adequate nutrition.
Treatment for Lung Problems
The main treatments for lung problems in people with CF are:
- Antibiotics » Most people with CF have ongoing, low-grade lung infections. Sometimes, these infections become so serious that you may need to be hospitalized. Antibiotics are the primary treatment.
- Chest Physical Therapy » Also called chest clapping or percussion. It involves pounding your chest and back over and over again to dislodge the mucus from your lungs so that you can cough up the mucus. CPT for cystic fibrosis should be done three to four times each day. CPT is also often referred to as postural drainage. This involves your sitting or lying on your stomach with your head down while you do CPT. This allows gravity to help drain the mucus from your lungs.
- Exercise » Aerobic exercise helps loosen the mucus, encourage coughing to clear the mucus, and improve your overall physical condition. If you exercise regularly, you may be able to cut back on your chest therapy.
- Other Medications » Anti-inflammatory medications may help reduce the inflammation in your lungs that is caused by ongoing infections. Mucus-thinning drugs reduce the stickiness of mucus in your airways.
- Oxygen Therapy » If the level of oxygen in your blood is too low, you may need oxygen therapy. Oxygen is usually given through nasal prongs or a mask.
- Lung Transplantation » Surgery to replace one or both of your lungs with healthy lungs from a human donor may help you.
Treatment for Digestive Problems
Nutritional therapy can improve your growth and development, strength, and exercise tolerance. It may also make you strong enough to resist some lung infections. Nutritional therapy includes a well-balanced, high-calorie diet that is low in fat and high in protein.
Living With Cystic Fibrosis
If you have cystic fibrosis (CF), you should learn as much as you can about the disease and work closely with your doctors to learn how to manage it. Ongoing medical care is important. You should seek treatment from a team of doctors, nurses, and respiratory therapists who specialize in CF. These specialists are often located at CF Foundation Centers in major medical centers.

Air passages become clogged with mucus and there is often widespread obstruction
of the bronchioles. Expiration is especially difficult. More and more air
becomes trapped in the lungs, which results in obstructive emphysema.
Atelectasis can occur leaving small areas collapsed. Eventually the chest
assumes a barrel shape. The right ventricle, which supplies the lungs, may
become strained and enlarged. Clubbing of the finger and toes may occur due to
the compensation response indicating the chronic lack of oxygen.
Cystic fibrosis affects the pancreas. The mucus clogs the duct and
blocks the transfer of enzymes from the pancreas to the intestines. These
enzymes are needed to break down food that is necessary for proper growth and
weight gain. The mucus in the digestive tract blocks the absorption of
necessary nutrients. This is why there is often no weight gain despite good
appetites. This can be associated with failure to thrive. The buttocks...

Respiratory clinic - girl with known cystic fibrosis
Dr Louise Selby, paediatric registrar, and Dr Donna McShane, paediatric cystic fibrosis consultant, guide you through a case of a young girl with known cystic fibrosis
A seven-year-old girl with known cystic fibrosis (CF) presents with coryza and sore throat. She has also had intermittent abdominal pain before bed for the past four nights, although has been eating and drinking well. Bowels have been opened every two to three days. She has been attending school, denies any increase in cough or breathlessness and she feels well in herself, which is why her parents have come to see you, rather than attending hospital. Spirometry was performed two months previously (FEV1 of 87% and FVC of 92%). Her parents tell you that she has previously been treated for pseudomonas infection about a year ago, which was eradicated and has not been grown on cough swab since.
Her current treatment includes inhaled salbutamol, vitamins A,D, E and K, creon capsules with food, hypertonic saline nebulisers, nebulised DNase.
On examination she is afebrile and of slim build. There are no signs of respiratory distress, and her chest is clear with a mildly wet huff (a crepitation heard at the end of a short, sharp expiration). ENT examination shows mildly inflamed nasal turbinates and an erythematous throat, but no visible pus. Abdominal examination is unremarkable. The GP suspects a viral infective exacerbation, but does not feel referral to hospital is warranted at this stage.
CF is an autosomal recessive condition with a carrier frequency of approximately one in 2500, affecting around 9000 people in the UK. It is caused by an autosomal recessive defect in the cystic fibrosis transmembrane regulator gene, resulting in reduced clearance of lung secretions, progressive infection, inflammation, and declining lung function. The defective gene also causes development of viscous secretions in the pancreas, causing obstructive damage to its exocrine function and malabsorption, requiring enzyme replacement (Creon) in around 85% cases.
The microbiology of CF is complex and challenging.

Cystic fibrosis (CF; OMIM®: 219700) is autosomal recessive, multisystem disease leading to significant morbidity and early death. Characteristic manifestations include recurrent lung infections, malabsorption, malnutrition, and infertility (especially in males). Cystic Fibrosis is caused by thick and sticky mucus due to the disturbances of salt homeostasis in cells. Biochemical hallmark of the disease is elevated sweat chloride concentration.
CF is caused by mutations in the cystic fibrosis conductance regulator gene (CFTR; OMIM®: *602421; HGNC number: 1884), located on chromosome 7. CFTR functions as a chloride channel and controls the regulation of other transport pathways. Asymptomatic carrier parents, who have no physiological or biochemical outcome that enables routine identification, typically have one CFTR mutation; whereas diseased progeny carry at least two mutations, one on each CFTR gene allele. CF has a high incidence in people of Northern European descent, occurring in approximately 1 in 2500 live births.
The most common mutant allele is the F508del mutation , which is a deletion of three basepairs at the 508th codon causing the deletion of a phenylalanine residue and subsequent defective intracellular processing of the CFTR protein that is an important chloride channel. Worldwide, the F508del mutation is responsible for approximately two-thirds (66%) of all CF chromosomes; however, there is great mutational heterogeneity in the remaining one-third of all alleles . The next most frequent mutation was G542TER – a G-to-T change in nucleotide 1756 in exon 11 is responsible for a stop mutation in codon 542 .
Not only is there heterogeneity in the mutations causing Cystic Fibrosis, but the pathogenetic mechanisms also vary. Deletion of phenylalanine-508 appears to cause disease by abrogating normal biosynthetic processing and thereby resulting in retention and degradation of the mutant protein within the endoplasmic reticulum. Other mutations, such as the relatively common G551D mutation , appear to be normally processed and, therefore, must cause disease through some other mechanism. G551D mutation, which is within the first nucleotide-binding fold of the CFTR, is the third most common CF mutation, with a worldwide frequency of 3.1% among CF chromosomes .

The major objective of chest treatment is to prevent infection, remove secretions and thereby delay the rate of lung damage and maintain respiratory function. This is done by:
- regular surveillance of secretions and prompt and aggressive treatment of infection with antibiotic therapy, either oral, aerosol or intravenous
- oral prophylactic antibiotic therapy in younger children
- regular chest physiotherapy to aid removal of bronchial secretions
- use of bronchodilators and oral steroids to open the airways and reduce inflammation
- encouragement of an active lifestyle and physical exercise
Pancreatic insufficiency (PI) is the most common gastrointestinal defect in CF affecting approximately 95% of patients in northern Europe . Approximately 92% of infants will be pancreatic insufficient by the age of 12 months , although the introduction of newborn screening and early identification of patients with milder mutations may result in the proportion of patients with known pancreatic sufficiency increasing in the future.
PI develops when more than 90% of acinar function is lost. Damage begins in utero and there is ongoing destruction of acini and replacement with fibrous and fatty tissue. Consequently the secretion of digestive enzymes and bicarbonate is reduced or absent, resulting in malabsorption of fat, protein, bile, fat soluble vitamins and vitamin B12. Treatment is with the use of pancreatic enzyme replacement therapy (PERT).
Diagnosis of PI is made by faecal elastase measurement. In the 10%−15% who are defined as having normal pancreatic function at diagnosis, enzyme secretion may be diminished. However, it may be sufficient for digestion of nutrients without the need for PERT . A proportion of those with normal faecal elastase will go on to develop PI; faecal elastase should be rechecked periodically and if symptoms of malabsorption develop.
Meconium ileus is the presenting feature in up to 25% of infants with CF. It becomes apparent within the first days of life and often before the result of newborn screening is available. It is caused by a blockage of the terminal ileum with thick meconium and develops in utero. Management of meconium ileus may be conservative; however, some patients will require surgical intervention, with or without intestinal resection and stoma formation.

Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease.
CF is a rare genetic disease found in about 30,000 people in the U.S. If you have CF or are considering testing for it, knowing about the role of genetics in CF can help you make informed decisions about your health care.
If you or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, you may have many questions.
Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Raising a child with cystic fibrosis can bring up many questions because CF affects many aspects of your child’s life. Here you’ll find resources to help you manage your child’s daily needs and find the best possible CF care.
Living with cystic fibrosis comes with many challenges, including medical, social, and financial. By learning more about how you can manage your disease every day, you can ultimately help find a balance between your busy lifestyle and your CF care.
People with CF are living longer, healthier lives than ever before. As an adult with CF, you may reach key milestones you might not have considered. Planning for these life events requires careful thought as you make decisions that may impact your life.
People with cystic fibrosis are living longer and more fulfilling lives, thanks in part to specialized CF care and a range of treatment options.
Cystic Fibrosis Foundation-accredited care centers provide expert care and specialized disease management to people living with cystic fibrosis.
We provide funding for and accredit more than 120 care centers and 53 affiliate programs nationwide. The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF.
The Cystic Fibrosis Foundation provides standard care guidelines based on the latest research, medical evidence, and consultation with experts on best practices.
As a clinician, you’re critical in helping people with CF maintain their quality of life. We’re committed to helping you partner with patients and their families by providing resources you can use to improve and continue to provide high-quality care.

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Cystic fibrosis: Clinical
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The CFTR protein is a channel protein that pumps chloride ions into various secretions. Those chloride ions help draw water into the secretions, which helps to thin out the secretion.
Without CFTR protein on the epithelial surface, chloride ions aren’t pumped into the secretions, and that leaves the secretions thick and sticky.
In some countries, diagnosis of cystic fibrosis is done with newborn screening. Usually it’s done by detection of a pancreatic enzyme called immunoreactive trypsinogen or IRT, which is released into the fetal blood when there’s pancreatic damage from CF.
A confirmatory test is the quantitative pilocarpine iontophoresis, better known as the sweat test, which detects high levels of chloride in the sweat.
So if chloride levels in the sweat are high, meaning over 60 mmol/L, CF diagnosis is very likely, while intermediate levels, from 30 to 59 mmol/L in infants below 6 months or 40 to 59 mmol/L in older infants, children, and adults, mean CF diagnosis is possible.
In both cases, DNA testing is done to detect the most common cystic fibrosis-related mutations.
If two or more of these mutations are detected, one in each chromosome then the diagnosis of CF is confirmed.
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About 1,900 CFTR mutations were reported, but one single mutation (F508del), associated with severe CF, accounts for ~70% of CF chromosomes worldwide . Despite impressive advances in our understanding of the molecular basis of CF, life expectancy and quality of life for CF patients are still limited .
For the vast majority of patients, the diagnosis of classic forms of CF is established early in life and suggested by one or more characteristic clinical features, a history of CF in a sibling or, more recently, by a positive newborn screening result , . Such diagnosis is usually supported by evidence of CFTR dysfunction through identification of two CF-disease causing mutations, two abnormal sweat-Cl−tests (≥60 mEq/L), and/or distinctive transepithelial nasal potential difference (NPD) measurements , .
However, depending on the ethnic background of the populations tested  there is a fraction of patients escaping such diagnosis criteria by presenting “non-classic” symptoms, i.e., milder disease and often inconclusive evidence of CFTR dysfunction from the available diagnostic tools , . For such individuals with clinical phenotypes not fully meeting the CF diagnosis criteria it is also difficult to exclude CF. These are usually described as “CFTR-opathies”  or CFTR-related disorders (CFTR-RD) , . Moreover, the recently implemented extensive newborn screening programs identify increasing numbers of asymptomatic CF patients merely identified by elevated serum concentrations of immunoreactive trypsinogen (IRT), posing new challenges to the CF diagnosis paradigm , , , especially when associated with borderline sweat [Cl−] and/or inconclusive CFTR genotypes , , , . To confirm/exclude a CF diagnosis in such increasing numbers of individuals, besides close clinical follow-up, further laboratory support is required , in particular, there is a need for robust methods relying on the functional assessment of CFTR.
Assessment of CFTR (dys)function in native colonic epithelia ex vivo, as we previously reported, constitutes a good approach to this end , . However, since those data were reported, other groups have investigated the abnormalities in electrogenic Cl− secretion in the intestinal epithelium of CF patients using Ussing chamber measurements by different protocols –. Unfortunately, the final composite parameter used by some results from a combination of experimental readouts not all relying on direct measurement of CFTR-mediated Cl− secretion, thus leading to conflicting results and precluding good correlations with clinical symptoms –.

Advances in CF care, screening and treatment mean that length and quality of life are improving. Currently, about half cystic fibrosis patients will live longer than 40 years and children born with the condition now will probably live longer than this.
However, treatments can be time consuming and may have side-effects. Treatments can include physical therapy and (inhaled) medicines. Low digestive efficiency can also be managed by a high calorie diet (individuals with low digestive efficiency may have to consume more than 1,000 extra calories a day), which can pose particular challenges, especially for young children.
In severe cases of CF, the lungs may stop working properly and all medical treatments may no longer help, known as respiratory failure. Here, a lung transplant may be recommended. This serious operation carries significant risks (and is only possible if suitable donor lungs can be obtained) but can greatly improve quality and length of life for people with CF.

ICD-10-CM Code E84.0
Cystic fibrosis with pulmonary manifestations
Billable CodeBillable codes are sufficient justification for admission to an acute care hospital when used a principal diagnosis.
E84.0 is a billable ICD code used to specify a diagnosis of cystic fibrosis with pulmonary manifestations. A 'billable code' is detailed enough to be used to specify a medical diagnosis.
The ICD code E84 is used to code Cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in males among others. Different people may have different degrees of symptoms.
|Specialty:||Medical Genetics, Pulmonology|
|ICD 9 Code:||277.0|
Clubbing in the fingers of a person with cystic fibrosis
Coding Notes for E84.0 Info for medical coders on how to properly use this ICD-10 code
Additional Code Note:
Use Additional CodeUse Additional Code note means a second code must be used in conjunction with this code. Codes with this note are Etiology codes and must be followed by a Manifestation code or codes.
- Code to identify any infectious organism present, such as:
- Pseudomonas See code B96.5
- DRG Group #177-179 - Respiratory infections and inflammations with MCC.
- DRG Group #177-179 - Respiratory infections and inflammations with CC.
- DRG Group #177-179 - Respiratory infections and inflammations without CC or MCC.
Related Concepts SNOMET-CT
- Cystic fibrosis of the lung (disorder)
Coding Advice SNOMET-CT
- Consider additional code to identify specific condition or disease
ICD-10-CM Alphabetical Index References for 'E84.0 - Cystic fibrosis with pulmonary manifestations'
The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code E84.0. Click on any term below to browse the alphabetical index.

Cystic fibrosis management: A partnership with primary care providers
Diana Quintero, MD, Nicole Brueck, MSN FNP-BC, and
Diana R. Quintero, MD, is a pediatric pulmonologist and program director of Cystic Fibrosis at Children’s Hospital of Wisconsin. She also is an associate professor of Pediatric Pulmonary and Sleep Medicine at the Medical College of Wisconsin.
Nicole L. Brueck, MSN, FNP-BC, is a pediatric pulmonary advanced practice provider at Children's Hospital of Wisconsin and the Medical College of Wisconsin.
Theresa E. Kump is a clinical research coordinator at Children's Hospital of Wisconsin.
Cystic fibrosis (CF) is an autosomal recessive disease that affects the lungs and digestive system of about 30,000 children and adults in the U.S. (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
Obstructs the airway and leads to life-threatening bronchiectasis
- Affects the pancreas and stops enzymes from helping absorption of food
- Impacts other organ systems affecting quality of life
In the 1950s, few children with CF lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with this disease. Many people with CF can now expect to live into their 30s, 40s and beyond.
The Cystic Fibrosis Foundation is a nonprofit donor-supported organization dedicated to the development of new drugs to fight the disease, improve the quality of life for those with CF and ultimately to find a cure. The foundation has supported a better understanding of the disease and improved patient care through the development of a national database, PortCT. More than 110 institutions accredited by the foundation (including Children’s Hospital of Wisconsin) gather important information from every patient at every visit. This data is entered into the database and outcomes are tracked and trended. The database provides the ability to compare one center to another and to indicate which areas of care need improvement.
Newborn screening for CF in Wisconsin began in 1994. Although many newborns will have a positive newborn screen for the disease, fewer than 10 percent will actually have it. Research has proven that infants diagnosed with CF through newborn screening and treated before symptoms begin are healthier.

Children and adolescents should be encouraged to exercise for 20−30 minutes three times per week and exercises should include high impact weight bearing exercises.
Glucocorticosteroid use should be minimised and CF pulmonary exacerbations should be promptly treated to minimise the systemic inflammatory effect on bone. Pubertal delay should be recognised and treated.
Malnutrition in cystic fibrosis
The malnutrition seen in CF is multifactorial and is determined by three main features: energy loss, increased energy expenditure and anorexia.
Pancreatic insufficiency in the majority of patients with CF results in pancreatic exocrine secretions containing fewer enzymes and bicarbonate; pancreatic secretions have a lower pH and are a smaller volume than in those with pancreatic sufficiency. The consequence, when untreated, is foul smelling frequent loose stools. Malabsorption of fat and nitrogen is severe in untreated patients; however, carbohydrate malabsorption is minimal. Malabsorption can be controlled with the use of PERT although, even when treated, many patients still have a degree of fat malabsorption. Estimates suggest that stool energy losses account for up to 11% of gross energy intake .
Pancreatic bicarbonate deficiency results in reduced buffering of gastric acid in the duodenum, resulting in decreased efficiency of pancreatic enzymes. Mucosal ion transport abnormalities affect water and electrolyte transport and there may be impaired mucosal uptake of nutrients. Altered motility may affect intestinal transit time and impact on absorption of nutrients.
Energy losses may be further exacerbated by previous gastrointestinal surgery for meconium ileus which may result in shortening of the bowel, strictures at the site of anastomoses, malrotation and adhesions. Energy may be lost due to vomiting following coughing and GOR. Untreated CFRD will cause energy loss through glycosuria. CFLD may increase malabsorption.
Increased energy expenditure
Many investigators describe an increase in resting energy expenditure (REE) in patients with CF, with a large range of requirements. Impaired lung function significantly increases REE and can double REE above that of controls . Increased REE is closely associated with declining pulmonary function and subclinical infection [51–54].
Continuous injury to the lungs leads to progressive fibrosis and airway obstruction, with increased work of breathing.

Pancreatic enzymes –People with CF who have blockage of the pancreas (also called ''pancreatic insufficiency') need to take digestive enzymes in capsule form. These enzyme capsules need to be taken before each meal or snack. The enzymes will help your child digest food properly and allow him or her to gain weight and grow at a healthy rate.
Babies with CF can sometimes have ‘failure to thrive’, a condition in which their weight and height is far below that expected for their age. Pancreatic enzymes, along with a carefully planned diet, will help treat failure to thrive and will help your baby to grow at a healthier rate.
2. Diet and Vitamins:
- Vitamin supplements: People with CF have trouble absorbing some vitamins, especially fat-soluble vitamins such as vitamin A, D, E and K. Specific supplements may be suggested for your child.
- A higher-calorie diet: Many babies and children with CF need more food than typical in order to stay healthy. Some children with CF need up to twice the normal number of calories to grow appropriately. A dietician who has experience with CF can help you come up with a good nutrition plan for your child.
- Extra fluid: Your child may need to drink more water and liquids than other children in order to help loosen the thick mucus and to prevent dehydration. Children with CF lose more salt than others, especially during exercise or in hot weather.
3. Airway clearance therapy
Airway clearance therapy is done to break up and move mucus that has settled in the lungs and bronchi so that it can more easily be coughed up. It is usually performed several times a day and takes up to 20 to 30 minutes for each session. There are a number of ways to perform airway clearance therapy. Your doctor will recommend a method that will be most effective for you and your child. Some common types of airway clearance therapy are:
- Chest percussive therapy: Some people with CF have a parent or caregiver tap or clap on their chest and back to break up and move mucus. Some people use a handheld machine that causes vibrations on the chest and back.
- ThAirapy vest: Some people use a special vest that vibrates to break up the mucus.
4. Medications: Your doctor may recommend special medications to treat the lung symptoms of CF.

Cystic fibrosis (CF) is an inherited disease characterized by an abnormality in the body's mucus glands. It is chronic, progressive, and is usually fatal. Due to improved treatments, most people with CF live into their late 30s, and many even into their 50s.
Children with CF have an abnormality in the function of a cell protein called the cystic fibrosis transmembrane regulator (CFTR). CFTR controls the flow of water and certain salts in and out of the body's cells. As the movement of salt and water in and out of cells is altered, mucus becomes thickened.
In the respiratory system, mucus is normally thin and can easily be cleared by the airways. With CF, mucus becomes thickened and sticky and results in blocked airways. Eventually, larger airways can become plugged and cysts may develop.
Lung infections are very common in children with CF, because bacteria that are normally cleared, remain in the thickened mucus. Many of these infections are chronic. Pseudomonas aeruginosa is the most common bacteria that causes lung infections.
Children with CF also have involvement of the upper respiratory tract. Some individuals have nasal polyps that need surgical removal. Nasal polyps are small protrusions of tissue from the lining of the nose that go into the nasal cavity. Children with CF also have a high rate of sinus infections.
Symptoms that may be present due to the effects of CF on the respiratory system include the following:
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Online Resources of Respiratory Disorders

A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF.
More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF. Other genes also may play a role in the severity of the disease.
Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF.
Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children.
The image below shows how two parents who are both CF carriers can pass the faulty CFTR gene to their children.
Clinical trials are research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans. To find clinical trials that are currently underway for Cystic Fibrosis, visit www.clinicaltrials.gov.
Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical research.
The NHLBI updates Health Topics articles on a biennial cycle based on a thorough review of research findings and new literature. The articles also are updated as needed if important new research is published. The date on each Health Topics article reflects when the content was originally posted or last revised.

Cystic fibrosis is an autosomal recessive trait on chromosome 7. This
disorder affects chloride transport resulting in abnormal mucus production.
This lifelong illness usually gets more severe with age and can affect both
males and females. Symptoms and severity differ from person to person. Cystic
fibrosis is the most common fatal inherited disease among whites and the major
cause of chronic lung disease in children. 50% of people are expected to live
to be 30, but a majority die before age thirteen. 1:2000 whites have cystic
fibrosis, 1:17000 blacks, 1:6000 live births, 1:2500 Americans, and 1:20 is a
The genes are inherited in pairs, with one gene coming from each parent
to make the pair. Cystic fibrosis occurs when both genes have mutations. A
person with cystic fibrosis receives one cystic fibrosis gene from each parent.
The parents of a child, with cystic fibrosis, each carry one nonworking copy of
the gene and one working copy of the gene. The parents are called cystic
fibrosis carriers, and because they have one working gene they have no symptoms.
Carrier parents have 1:4 chance to have a child who is a noncarrier of cystic
fibrosis, a 1:2 chance to have a child who carries the gene, and a 1:4 chance
with each pregnancy to have an affected child. If you have a son or daughter
with cystic fibrosis, then you have a 1:1 chance of being a carrier. If you have
a brother or sister with CF, you have a 2:3 chance of being a carrier. If you
have a niece or nephew with CF, you have a 1:2 chance of being a carrier. If
you have an aunt or uncle with CF, you have a 1:3 chance of being a carrier and
a 1:4 chance if you have a 1st cousin with CF.
Cystic fibrosis affects the lungs in particular. The secretions are
thick and sticky rather than thin and watery. This interferes with the removal
of dust and germs. It can lead to lung infections and even chronic lung damage.

It is useful to remember that increase in respiratory symptoms and signs in CF may be related to the upper respiratory tract which may be obstructed by the huge tonsils and adenoids. In such cases adenotonsillectomy may be followed by dramatic improvement even in young children not only in overnight oxygen saturations but also in weight increase and general wellbeing.
M, Zenorini A, Perobelli S, Zanolla L, Mastella G, Braggion C. Prevalence of
urinary incontinence in women with cystic fibrosis. BJU Internat 2001; 88: 44-48. [PubMed]
Of 176 women with CF, 35% were occasionally incontinent of urine but 24% were regularly incontinent. As urine loss is likely to be an under-reported problem, particularly in a CF clinic devoted to mainly chest problems, the authors suggest that women with CF should be asked directly about urinary incontinence as part of their routine follow-up. Pelvic floor muscle exercises were said to help. Also there was a similar report from Manchester Adult CF clinic (Orr A et al. BMJ 2001; 322:1521[PubMed]) and a further one showing some response to pelvic floor muscle exercises (McVean RJ et al. J Cyst Fibros 2003; 2:171-176.[PubMed]).
These are really important reports which would improve the recognition of a distressing and relatively common symptom in women with CF which may go unreported and cause considerable distress for many years.
2006 Prasad SA,
Balfour-Lynn IM, Carr SB, Madge SL. A comparison of prevalence of urinary incontinence
in girls with cystic fibrosis, asthma and healthy controls. Pediatr Pulmonol
2006; 41:1065-1068. [PubMed]
Another study on urinary incontinence - this time on younger patients. In recent years the physiotherapists have taken an increasing interest in bladder dysfunction in CF. Girls with CF aged 11 to 17 years were studied and urinary incontinence was reported by 17/51 (33%) girls, compared with only 4/25 (16%) of those with asthma and 2/27 (7%) healthy controls. The problem was associated with increasing severity of lung disease.

Recent uncontrolled trials suggest that once daily injections of intermediate or long acting insulin improve weight and lung function and are useful in CFRD and early insulin deficiency .
Experience in the use of insulin pumps for the treatment of CFRD is in its infancy; however, initial studies suggest improvements in blood glucose control, body weight and lean body mass .
Cystic fibrosis associated liver disease
Approximately 5%−10% of patients develop multilobular cirrhosis during the first decade of life. Most patients later develop signs of portal hypertension with complications such as variceal bleeding. Liver failure develops later usually in adult life, but is not inevitable. Cystic fibrosis associated liver disease (CFLD) is associated with more severe CF phenotypes .
Annual screening for liver disease is important to detect pre symptomatic signs; the bile acid ursodeoxycholic acid, which may halt progression of liver disease, should be commenced. Liver disease should be considered if the patient has two of the following: persistently abnormal liver function tests, abnormal physical examination or abnormal liver ultrasound. A liver biopsy should be performed if there is doubt over the diagnosis. Patients should have annual assessment of liver function.
The development of liver disease has a negative impact on nutritional status , often as a result of worsening fat absorption, and aggressive nutritional management is important to reverse this trend . Liver transplantation remains the only option for those who develop end stage liver disease and is considered to be effective, initially stabilising the decline in pulmonary function which is a feature of the development of CFLD. One year survival post transplant is estimated at 92.3% and 84.1% after 5 years . Studies suggest, however, that nutritional status does not improve post liver transplant and pre transplant body mass index (BMI) does not alter survival .
Reduced bone mineral density (BMD) was first described in CF in 1979, but the full extent of the problem was not apparent until the 1990s when detailed studies were performed. Patients may develop low BMD through either osteoporosis or vitamin D deficiency osteomalacia.

Distal intestinal obstruction syndrome
Distal intestinal obstruction syndrome (DIOS) is a common complication in CF and estimates suggest a prevalence of 5−12 episodes per 1000 patients per year in children . It is characterised by frequent abdominal pain, accompanied by complete or partial intestinal obstruction. Faecal material and mucus gathers in the distal ileum and there is often a palpable mass in the right lower abdomen.
DIOS is more common in older patients, in those with PI (although it can be seen in pancreatic sufficient patients) and in those who have had previous gastrointestinal surgery. It usually responds to medical management including rehydration combined with stool softening laxatives or gut lavage. In extreme cases surgical intervention may be necessary.
Gastro-oesophageal reflux (GOR) has been reported in approximately 20% of infants with CF , although in a review of screened infants at one UK centre incidence was as high as 43% . The mechanisms are unclear; however, it is considered to be mainly due to inappropriate relaxation of the gastro-oesophageal sphincter. GOR is most prevalent in young children with CF and improves with age. GOR may result in poor weight gain, feeding disturbances, abdominal pain, and respiratory symptoms including wheeze and reflex bronchospasm. Treatment includes thickening feeds and the use of anti-reflux medication .
Abdominal pain has been reported in approximately 30% of patients . It is particularly common in children with poorly controlled malabsorption or constipation, but may be due to other disorders including intussusception, appendicitis, Crohn’s disease and cow’s milk protein enteropathy. Abdominal pain may negatively impact on nutritional intake and nutritional status.
Other gastrointestinal problems
Other problems include rectal prolapse, acute pancreatitis, coeliac disease and Crohn’s disease.
Other clinical problems
CF related diabetes
CF related diabetes (CFRD) is the most common comorbidity affecting approximately 19% of adolescents and up to 50% of adults . The prevalence is increasing with the increased survival of people with CF. It is a distinct type of diabetes with features of both type 1 and type 2 diabetes. There is progressive fibrous and fatty infiltration of the exocrine pancreas resulting in destruction of the islet cells, leading to loss of endocrine cells and reduced insulin production. In addition there may be insulin resistance.

That’s the only take home message for today.
If they arrive feeling rubbish, with a productive cough, crackles, no appetite, weight loss, and looking terrible then get in touch with your CF centre as they’re likely to need an admission for IV antibiotics for their chest exacerbation. They may have tachypnoea, low sats, and a fall in lung function – try and get spirometry (or a peak flow reading) if you have access to this. If they are wheezy, or fulfil the diagnostic criteria, we might consider a diagnosis of allergic broncho-pulmonary aspergillosis (ABPA). This is an allergic reaction to inhaled aspergillus spores, and treatment is focused on the trigger (antifungals e.g. intraconazole) and the problem (misbehaving T-cells are treated with steroids).
Abdo pain is very common in CF. Reflux/epigastric pain is common, but usually well controlled on a proton pump inhibitor. More troublesome is constipation and lower abdominal pain, with or without “distal intestinal obstruction syndrome” (DIOS). DIOS describes the clinical picture of a sticky lump of viscous faeces and mucous causing partial or complete blockage of the bowel, often around the terminal ileum. The child may have diarrhoea, or obstruction, with colicky abdominal pains, including right iliac fossa pain and possibly a palpable lump in the right iliac fossa – a difficult differential diagnosis that includes appendicitis, or adhesions from previous bowel surgery (e.g. neonatal meconium ileus). Treatment is hydration – oral unless they’re vomiting, in which case iv fluids – and softening up the lump (with movicol, oral gastrografin, or in severe cases with a macrogol such as Klean-prep). Speak to your local CF team, as severe cases may need transfer across.
A normal sweat chloride is <30 mmol/L, and in CF it may be >90 mmol/L.
The skin is a big organ, so these children can lose lots of fluid and salt across the skin – particularly in hot weather. Extra fluids and salts are very important in CF.

Cystic Fibrosis and the Reproductive System
How does CF affect the reproductive system?
Children with CF have an abnormality in the function of a cell protein called the cystic fibrosis transmembrane regulator (CFTR). CFTR controls the flow of water and certain salts in and out of the body's cells. As the movement of salt and water in and out of cells is altered, mucus becomes thickened.
In the reproductive system, the thickened secretions can cause obstructions and affect the development and function of the sexual organs.
Most males with CF have obstruction of the sperm canal known as congenital bilateral absence of the vas deferens (CBAVD). Women also have an increase in thick cervical mucus that may lead to a decrease in fertility. This condition has not been reported to affect sexual drive or performance.
Symptoms that may be present due to the effects of CF on the reproductive system include:
Delayed sexual development
Absence or stopping of menstruation
Irregular menstrual periods
Inflammation of the cervix
Infertility or sterility
Both men and women should consider the added demands of parenthood and how it might affect their own health. The decision is personal, and you should talk with your health care team if you are considering parenting or having a baby.

It is possible that the main title of the report Cystic Fibrosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body especially those that produce mucus. Saliva and sweat glands may also be affected. Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lungs) or externally (e.g., sweat glands). In cystic fibrosis, these secretions become abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection. The symptoms of cystic fibrosis can vary greatly in number and severity from one individual to another. Common symptoms include breathing (respiratory) abnormalities including a persistent cough, shortness of breath and lung infections; obstruction of the pancreas, which prevents digestive enzymes from reaching the intestines to help break down food and may result in poor growth and poor nutrition; and obstruction of the intestines. Cystic fibrosis is slowly progressive and often causes chronic lung damage, which eventually results in life-threatening complications. Because of improved treatments and new treatment options, the outlook and overall quality of life of individuals with cystic fibrosis has improved and nearly 50 percent of individuals with the disorder are adults. Cystic fibrosis is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is inherited as an autosomal recessive trait.
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Cystic fibrosis (CF) is a genetic (inherited) disease that causes sticky, thick mucus to build up in organs, including the lungs and the pancreas.

(More than 10 million Americans carry the CF gene – most without knowing it.) Children with the disease are usually diagnosed before the age of 2, but about 10 percent of cases go undetected until adulthood.
How can I find out whether my child has CF?
The definitive test for CF is something called a sweat test. This test is quick and painless: A drug called pilocarpine stimulates a spot on the arm to sweat. The doctor places a piece of filter paper on the area to absorb the sweat and then tests its sodium and chloride content. Higher than normal levels strongly suggest cystic fibrosis. A family history of CF and other tests, such as a chest X-ray and blood or saliva genetic tests, may add to the evidence.
How is the disease treated?
Children with cystic fibrosis need ongoing medical care. This is best provided at a specialized CF center with a team of doctors, nurses, and others who have expertise with the disease. Symptoms vary greatly from child to child, even when they are siblings with the same genetic defect. Often symptoms come and go – they may be relatively mild or frighteningly severe.
The vast majority of young children with CF can be treated as outpatients, but they need to be seen frequently to make sure the disease is being treated properly. At each visit a sputum (saliva or mucus) sample is taken to help determine which germs are causing lung infections. Occasionally, if symptoms flare up, the child has to be admitted to the hospital to get intravenous antibiotics.
If your child has cystic fibrosis, he should receive routine childhood vaccines against such common illnesses as Hib and pertussis and an annual flu shot.
Most children with CF are given prescription medications, including antibiotics to treat infection, medicines that help break up mucus in the lungs, and drugs that reduce the inflammation that causes lung destruction. Each child responds best to a different combination of physical and drug therapies, and it's the job of the doctors and the parents to find the right mix. Parents play an important role by watching how their children respond to different drugs.
Researchers are working to develop other treatment options as well, including gene therapy (to replace the gene that causes the disease), drugs that help move salt in and out of the cells properly, and new drugs to prevent and treat infections.

The World Health Organisation estimates that in the European Union one in 2,000-3,000 newborns is found to have CF, while the incidence of CF is reported to be one in every 3,500 births in the United States of America.
CF mutations can be categorised as falling into one of five categories based on how they affect the CFTR protein. Class I to III mutations generally result in a more severe CF phenotype, while those belonging to classes IV-V enable some functional CTFR protein to be produced and thus result in a milder form of the disease. The characteristics of each class can be summarised as follows:
- Class I: Shortened/absent protein
- Class II: Protein does not reach the cell membrane
- Class III: Channel incorrectly regulated
- Class IV: Lowered chloride conductance
- Class V: Incorrect gene splicing
Is has been estimated that around 85% of CF patients have Class II mutations; it is within this class that the most common mutation, F508del, occurs. In this mutation, three DNA nucleotides that comprise the codon for phenylalanine are deleted, resulting in a lack of this amino acid at the 508th position on the protein and the consequential mis-folding of the protein. The percentage of patients who have this type of mutation is thought to be around 70.
It is not yet clear how some of the mutations in CF result in particular health effects and much remains to be discovered. Interestingly, there is some evidence that the severity of CF can be influenced by other genetic and environmental factors, such as mutations in other genes besides the CFTR gene. However, again, little is known about this.
Despite there being some gaps in knowledge, CF can be regarded as one of the more well understood genetic disorders and research has paved the way to vast improvements in life expectancies over the past 30 years; while it used to be common for a person with CF not to live beyond childhood, many now live to nearly 40 years of age, as advances in treatments and technologies have made the potential for a cure ever more likely. However, the scope for improvement is vast and there is room in the market – and indeed, a high need – for many more disease-modifying drugs.
The main method for treating the lung problems for which CF is particularly well known is via chest physical therapy, exercise and medicines that clear away mucus.

Staphylococcus aureus can be cultured early in infancy and continual anti-staphylococcal antibiotic prophylaxis is recommended for all children under the age of three years. With increasing age, Pseudomonas aeruginosa becomes the most common pathogen, and can often be cleared with early, aggressive antibiotic therapy, but may be isolated sporadically following eradication. Preventing pseudomonas infection from becoming chronic can have a positive effect on long-term survival. With increasing age, other gram negative organisms such as Burkholderia cepacia can chronically infect the lung – usually later in disease progression – and is associated with a high mortality rate.
In most cases, CF will be diagnosed antenatally or by newborn screening. Following positive identification, diagnosis is confirmed by genetic mutation analysis and a positive sweat test. In a study completed in East Anglia over a 30-year period, a total of 730,730 babies were screened, resulting in 296 screen positive cases of CF and 29 false negatives – including 10 false negatives with meconium ileus. In the study, 10 missed CF cases were pancreatic insufficient, but all were diagnosed before their first birthday, highlighting that some children will be missed by newborn screening. Screening for CF does however detect 95% of unsuspected CF cases presenting before three years of age.
· Children missed by screening may be diagnosed by symptoms (faltering growth, persistent respiratory or gastrointestinal symptoms) and require a sweat test and genetic analysis. Education of the child and parents should be provided by the CF multidisciplinary team within seven days.
With all colds, accompanied by a cough or other lower respiratory symptoms, an oral antibiotic that will cover infection from Staphylococcus aureus and Haemophilus influenza should be started, for example co-amoxiclav. Children are not often able to expectorate sputum, therefore a throat swab and cough swab should be sent to the local microbiology department and the results followed up, and copied to the child’s CF team. The method of obtaining a cough swab is similar to that of a throat swab, but no direct contact is made with the oropharynx – the child coughs onto the swab placed at the back of the oropharyngeal cavity. It is often possible to email the CF specialist nurse to inform them that a result is pending, and antibiotic therapy should be altered as necessary.

Cystic Fibrosis affects myself and 70,000 other people across the world who fight it every day. It's shortened the lives of thousands, including my amazing sister, Angela, who bravely lived with cystic fibrosis for 16 years. Please take a moment to read the info below and click on each these links so you can help each of these wonderful organizations and memorials.
What Is Cystic Fibrosis? ~ Taken from the Cystic Fibrosis Foundation website
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
- clogs the lungs and leads to life-threatening lung infections; and
- obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.
People with CF can have a variety of symptoms, including:
- very salty-tasting skin;
- persistent coughing, at times with phlegm;
- frequent lung infections;
- wheezing or shortness of breath;
- poor growth/weight gain in spite of a good appetite; and
- frequent greasy, bulky stools or difficulty in bowel movements.
- About 1,000 new cases of cystic fibrosis are diagnosed each year.
- More than 70% of patients are diagnosed by age two.
- More than 45% of the CF patient population is age 18 or older.
- The predicted median age of survival for a person with CF is in the mid-30s.
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Updated on December 10, 2018. Medical content reviewed by Dr. Joseph Rosado, MD, M.B.A, Chief Medical Officer
Cystic fibrosis (CF) is one of the many chronic conditions that can be treated with medical marijuana. This inherited disease can lead to pulmonary and sinus infections, along with gastrointestinal issues. It can also cause lung damage, which makes it difficult to breathe and creates pain in patients’ chests and lungs. Other parts of the body cystic fibrosis affects include the pancreas, liver, digestive tract and reproductive tract.
About 30,000 people in the country have CF, and around 70,000 people worldwide have been diagnosed with the life-threatening condition. Research, education and improved care is changing the way CF affects people. Most children who were diagnosed with CF 60 years ago didn’t live to see adulthood, but today’s life expectancy for patients with CF is close to 40 years old.
Though CF affects the patient’s entire body, the lungs are the organs that are heavily affected. Cystic fibrosis trans-membrane regulator, or CFTR, is a protein that facilitates and manages the movement of sodium, chloride and water in the body. When you’re diagnosed with CF, that means you either have too much or too little CFTR.
The malfunction of CFTR creates a thick mucus that gets in the patient’s airways, making it painful and hard to breathe. As a result of the mucus not being cleared, bacteria can grow and infect the airways — this essentially causes a vicious cycle of airway blockage, mucus and infections. After many years of this cycle, the airways and lung tissue are eventually damaged.
As of now, there’s no cure for CF. And, since the symptoms can vary so drastically from patient to patient, doctors typically treat the disease on a case-by-case basis with a goal of relieving the symptoms rather than curing them. Infections, blockages and mucus build-up are some of the main symptoms they aim to relieve.
Currently, the following drugs are being employed as treatment methods for cystic fibrosis:
Other surgery, therapy and treatment options include:
While it can’t cure the life-threatening condition, medical cannabis can help to treat the lung pain you’re experiencing as a symptom of CF. The benefits a cystic fibrosis patient can get from medical cannabis could be enough to restore some of their quality of life.

Cystic fibrosis causes thick and sticky mucous throughout the body, leading to serious, chronic and systemic health problems. Along with breathing and lung problems, bowel symptoms are a leading health complication related to cystic fibrosis. This sticky mucous blocks tubes and ducts leading to the pancreas, which prevents essential enzymes from reaching the intestines. These enzymes are essential for the absorption of protein and fats in the body. Therefore, someone with untreated cystic fibrosis has an abundance of fats and proteins in their bowel. This is the cause of gastrointestinal or bowel symptoms in people with cystic fibrosis.
The most common bowel symptom related to cystic fibrosis is diarrhea. Stools also commonly appear greasy, bulky and foul-smelling. Stools may also appear pale and clay-colored [source: PubMed Health]. Another common symptom is blockage of the intestines, which leads to excessive gas, constipation and stomach pain. Intestinal blockage is especially common in newborns with cystic fibrosis. A distended, or swollen, abdomen is the result of severe constipation. In newborn infants, not passing their first bowel movement within 24 to 48 hours of birth is characteristic of cystic fibrosis. Children with untreated cystic fibrosis also show poor weight gain and growth. As a result, infants may exhibit a condition called failure to thrive. Poor weight gain and growth is the result of nutritional deficiencies commonly seen in people with cystic fibrosis. Children with cystic fibrosis simply cannot get enough nutrients from the food they eat.
Bowel-related complications are also fairly common in adults with cystic fibrosis. Left untreated, cystic fibrosis can lead to pancreatitis. Pancreatitis is an inflamed pancreas and can be painful. Rectal prolapse, whereby rectal tissue detaches and moves up the gastrointestinal system, is another complication. In severe cases, people with cystic fibrosis can also develop liver disease, diabetes, and gallstones [source: NHLBI].

The cystic fibrosis (CF) or mucoviscidosis is a genetic, chronic, developmental disease and it hit one newborn on
|Fig.1- Organs and systems involved in CF|
2500-2700 live births. In affected individuals, a biological fluids (mucus, sweat, spit, semen, digestive fluid) secreted by exocrine glands are much more dense and viscous than normal. The most frequent (Fig.1) clinical conditions interest a respiratory tract (chronic bronchitis), pancreas (digestive problems), rarely the intestine (stercorale perforation), of the liver (cirrhosis) and reproductive system (infertility, especially in male individuals). Abnormal secretions cause a progressive damage to involved organs.
The disease occurs especially within the first few years of life, sometimes later, and it can express with greater or lesser seriousness in different individuals.
There is a only symptomatic treatment and it consists in a bronchial drainage, in the respiratory infection antibiotics giving, exams to evaluate the pancreas function, in the vitamins supplements giving for digestive and nutritional problems. In the last few years the progress and prognosis of cystic fibrosis are significantly improved, especially if the disease is diagnosed before its time.
There are also atypical disease forms, characterized by a pancreatic sufficiency and simple respiratory problems;sometimes the disease can affect exclusively one organ as in the case of male infertility or occur in both sexes, with cyclic pancreatitis.
Cystic fibrosis is a monogenic disease, transmitted as an autosomal recessive disorder caused by mutations, DNA alterations occurring in the CFTR gene (Cystic Fibrosis Transmembrane Regulator). The frequency of the healthy carriers (asymptomatic carriers) in the general population is about 1 on 25 individuals. Two healthy carrier parents will have a 25% probability to have children with cystic fibrosis.
Themselves children will have 50% probability of being healthy carriers, as their parents.
The CFTR gene produces a protein controlling the transport of salts through the cell membrane; a mutation causes an abnormal protein that modifies the salt composition of glandular secretions, becaming a dense and viscous.
The only way to identify healthy carriers is to perform a DNA test for CFTR gene mutations. The analysis is complicated because there are over 1900 mutations.

When there is mucous in my lungs germs can thrive. I have to do all these things to move the mucous and get it out. I lose function when the infections take hold and scaring happens.”
Cystic fibrosis is a genetic disease that occurs when a child inherits two abnormal genes, one from each parent. Approximately, one in 25 Canadians carry an abnormal version of the gene responsible for cystic fibrosis. Carriers do not have cystic fibrosis, nor do they exhibit any of the symptoms of the disease.
Follow Chelsea Gagnon on Facebook @ Chelsea Fights Cystic Fibrosis.

Moreover, CF patients with residual values of CFTR-mediated Cl− secretion had intermediate values in those parameters, namely: sweat-Cl− values (109.80±8.34 mmol/l); FEE concentrations (444.57±78.05 µg/g), age at diagnosis (19.6±3.4 yrs), SK scores (mean1 = 90; mean2 = 77±14; mean3 = 63±12; mean4 = 55±7); and FEV1 (mean1 = n.a.; mean2 = 82±26; mean3 = 61±9; mean4 = 60±3). Moreover, patients with classic CF and ≤5% CFTR-mediated Cl− secretion consistently presented faster decline rates of pulmonary function ,  (Fig.3-D, dashed line), than Non-Classic CF patients retaining residual (Fig.3-D, dotted line) or normal CFTR functions (Fig.3-D, solid line, p = 0.001 by Kruskal-Wallis test). Regarding BMI (Fig.2-C, Table 1), only a modest trend was observed for lower BMI values in CF patients with absence of Cl− secretion, not related to age differences (Fig.S4-A, S3-C, Table 1).
Scatter-plot summarizing the distribution of Isc-CCH(IBMX/Fsk) against (A) age at diagnosis (in years); (B) SK clinical scores distributed by groups of ages; and (C) FEV1 distributed by groups of ages. Other details as in Fig.2. (D) Mixed regression model for decline rates in FEV1 vs. Age (n = 232 measurements) for Classic CF (y = 93.15–0.73x), Non-Classic CF (y = 92.23–0.52x), and Non-CF (y = 96.86–0.34×) groups, as described , .
Next, we analysed the distribution of other clinical features (MI, nasal polyposis, diabetes/GI, osteopenia/osteoporosis) and also presence of lung pathogens in the three groups under study.

Introduction: Cystic fibrosis (CF) is a common lethal genetic disorder. The aim of this study was to determine the common chest radiograph (CXR) patterns in adult CF, and correlate disease distribution on CXRs with genotype, age, and gender.
Methods: One hundred nine CF patients treated at Baylor Adult Cystic Fibrosis Center were identified. The intake CXR was reviewed and characterized as diffuse bilateral (DB), unilateral, upper lobe (UL), and lower lobe (LL) disease, or relatively normal. Lack of intake CXR, and/or genotype excluded 41 patients from analysis.
Results: Of 68 patients, 38 were homozygous for ΔF508 and 30 were heterozygous. Mean age of the population was 30 ± 8 years (± SD) [range, 18 to 48 years]. The most common CXR pattern was DB; 62% had DB, 28% had UL, and 7% had LL predominance. This is in contrast to the UL-predominant CXR pattern commonly described in the pediatric population. In 18 DB patients, archived pediatric films were available, and the average patient age was 15.7 years. DB pattern was present in 16 of 18 CXRs that antedated adult intake CXRs by an average of 12.7 years. Homozygous ΔF508 genotype was identified in 56% of patients and did not distinguish radiologic phenotypes. There was no association between radiograph pattern and identified infecting/colonizing organisms and percentage of predicted FEV1.
Conclusions: CF has commonly been reported as an UL disease. However, in this study of adult patients, the common pattern observed was DB. A small subgroup analysis suggests that DB disease was not a pattern of disease evolution but may be present from disease onset.

Without digestive enzymes, food in the small intestine cannot be broken down properly and nutrients cannot be absorbed. This often leads to poor growth and poor weight gain. It can also cause sluggishness and anemia. Because fat is not absorbed well, it ends up in the stools and causes them to be bulky, lighter in color and have a stronger odor.
What causes CF?
CF is an inherited condition that occurs when a particular cell protein is either missing or not working well. This protein is called “cystic fibrosis transmembrane conductance regulator” (CFTR). CFTR is normally made by the body and is not something we get by eating. One of CFTR’s jobs is to let chloride (a molecule found in salt) in and out of the cells of the body. Researchers are still trying to find out more about why of the lack of CFTR causes the health problems seen in people with CF.
CF is not contagious. You cannot get CF from living with, touching, or spending time with a person with CF.
What are the symptoms of CF ?
CF is variable and causes minimal effects in some people and more serious health problems in others. Symptoms usually start in early childhood. In fact, most children with CF show effects before one year of age. There are some people who do not find out they have CF until adulthood.
The first things parents often notice when a child has CF are:
- Salty sweat; many parents notice a salty taste when kissing their child
- Poor weight gain and growth, even when a baby or child eats a lot. This is sometimes called ‘failure to thrive (FTT)’
- Constant coughing or wheezing
- Thick mucus and phlegm
- Many lung and sinus infections (pneumonias and bronchitis)
- Greasy, smelly stools that are bulky and pale colored
- Intestinal problems (diarrhea or constipation, pain, gas)
- Polyps in the nose
About 15-20% of newborns with CF have a blockage of their intestines called meconium ileus. This is caused by thick stool that gets stuck in the intestines.
About 15% of children with CF have lung effects but do not have problems with digestion. About 85% of children have problems with both lungs and digestion.

Most of them (68%) showed mono-symptomatic features, including: respiratory symptoms in 29% (nasal polyps, chronic cough/bronchitis, pneumonia, bronchiectasis or pansinusopathy); 35% had abnormal gastrointestinal signs (nutrients malabsorption; failure to thrive; hepatobiliary disease; chronic diarrhoea; recurrent pancreatitis; diabetes and glucose intolerance; others presented osteopenia/osteoporosis, liver disease or male infertility. Fourteen percent of these “CF suspicion” individuals presented relatively mild lung disease and nutrition abnormalities, one presenting GI and another azoospermia. A group of 9 patients with severe phenotype (both respiratory and gastrointestinal) were initially included in this CF suspicion group (18%) due to their recent identification and while waiting for confirmation of a CF diagnosis (Table S1).
Assessment of CFTR-mediated Cl− Secretion in Rectal Biopsies
CFTR-mediated Cl− secretion was assessed in rectal biopsies from the above two sub-groups of CF patients (Classic and Non-Classic CF) as CF reference. As non-CF control group, we also analysed CFTR function in age-matched individuals undergoing routine colonoscopy for non-CF related reasons. Finally, measurements were carried out in the CF suspicion individuals to establish/exclude a CF diagnosis, following comparison with values from the CF patients and control groups.
As shown previously , , , , application of carbachol (CCH) under basal conditions elicited lumen-positive responses in CF and lumen-negative in non-CF tissues (Fig.1A, B, C). Nevertheless, due to variable levels of endogenous prostaglandins, lumen-positive responses can also be observed in non-CF control tissues , . Thus, when CCH was applied for a second time, now under indomethacin to completely inhibit endogenous cAMP (and thus CFTR-mediated Cl− secretion), all tissues presented lumen-positive responses correspondent to potassium (K+) exiting the cell (Fig.1A, B, C) , .

Medical advancement has brought about helpful treatments that would ease the symptoms of Cystic Fibrosis. Consult your doctor to prevent the disease from causing further complications.
It is better to diagnose it at its early stages. Note the symptoms and follow regular health check-ups.

This leads us to conclude of the importance of this approach for patients in the “grey” zone (Fig.2, 3) for the establishment/exclusion of a final diagnosis of CF or CFTR-RD.
Interestingly, our data are also highly informative to correlate CFTR function with CFTR genotypes (Fig.5). For instance, we were able to detect very low function (~5% CFTR function vs non-CF controls) in a patient bearing S549R, recently described as Class III , whereas significant CFTR-mediated Cl− secretion was found in two patients bearing 4428insGA and D1152H (84 and 64%, respectively). Thus, we classify the former here as CF-disease causing and the two latter as CF-RD mutations.
Indicated values are speculative. *D1152H may belong either to CFTR-RD or CFTR-disease causing mutations. CBAVD, Congenital Bilateral Absence of the Vas Deferens; ABPA, Allergic Bronchopulmonary Aspergillosis; PS, Pancreatic Sufficiency; PI, Pancreatic Insufficiency; MI, Meconium Ileus; DIOS, Distal Intestinal Obstruction Syndrome.
In the present study, we have also used a statistical discriminant analysis to identify which clinical and functional parameter(s) better reflects the differences among Classic CF, Non-Classic CF and Non-CF groups for prognosis. Results show that Isc-CCH(IBMX/Fsk) measurements are more discriminative than Isc-IBMX/Fsk, evidencing the highest discriminant power (90.4%) among the three groups studied. The second and third parameters with higher discriminant power are FEE and sweat-Cl− concentration, respectively. Using such analysis (Fig.4), one can for example predict that individuals in the “Non-Classic CF” group with values lying closer to the “Non-CF” cluster, have better prognosis than those with values closer to the “Classic CF” cluster. In fact, the only four cases with “Non-Classic CF” which were misclassified as “Classic CF” by this analysis, correspond to individuals with moderate PI and/or low levels of CFTR function. It may, thus be expected that these four patients develop severe CF earlier than most Non-Classic ones.

Interestingly, and corroborating such prediction among these four, there is a 19-year old patient with the F508del/G85E genotype, moderate PI (FEE = 103.89 µg/g) and ~12% of CFTR function (Fig.S2-C, Table S1) who recently (last 1½ yr) started to progress from a relatively mild to moderate-severe lung disease, with five pulmonary exacerbations plus surgery to remove nasal polyps associated with a strong sinusitis.
Recently, we demonstrated that the current approach may be used in pre-clinical assessment of therapeutic compounds efficacy directly on native tissues  and similarly it may be used to identify CF patients (and CFTR mutations) who will respond to innovative therapeutic strategies, namely those aimed at increasing the residual CFTR activity and already approved for clinical use for other mutations towards a predictive personalized-medicine approach , –. For example, the patient with S549R could be tested ex vivo for the correction with the FDA-approved potentiator Ivacaftor, as suggested by the in vitro data . Moreover, based on our data showing good correlations of CFTR-mediated Cl− secretion with absolute FEV1 values and FEV1 decline rate (Fig. 3), as well as taking into account our discriminant analyses (Fig.4) demonstrating that CFTR-mediated Cl− has the highest discriminant power (90.4%) to distinguish among Classic CF, Non-Classic CF and Non-CF groups, we propose that colonic CFTR-mediated Cl− secretion, perhaps together with sweat-Cl−, may be the best biomarker in clinical trials aimed at modulating CFTR , .
What is the Functional CFTR Threshold to Avoid CF?
Finally, in an attempt to further answer the old question “how much functional CFTR would be enough to avoid CF?”  we have put together the current and previous findings, including those concerning mRNA levels, to establish the threshold for CF , – (Fig.5). Indeed, we previously showed that ~5% of normal CFTR transcripts (relative to non-CF individuals) is sufficient to attenuate CF severity –. From our current and previous data, we propose that CFTR values above ~10% of normal CFTR function are required for a better CF prognosis since all “Non-Classical CF” patients had values for CFTR-mediated Cl− secretion higher than 10%.

What is Cystic Fibrosis?
Cystic Fibrosis, or CF, is a genetic disease that affects the exocrine glands. These glands control the production of sweat, digestive fluids, and mucus. Cystic Fibrosis causes the body to produce thick mucus that blocks airways, prevents normal digestive functions, and leads to bacterial infections.
Cystic Fibrosis Facts:
- Cystic Fibrosis is a recessive gene mutation, meaning both parents must carry the defective gene for their children to have CF.
- Advances in newborn screening help diagnose cystic fibrosis at birth.
- CF patients produce heavy mucus that builds up and damages many organs in the body.
- In the past decade, research and medical advancements have led to an increase in life expectancy for CF patients.
- CF is most commonly found in the Caucasian population of the United States.
- A sweat test is the easiest way to test for CF.
- Common symptoms and complications among CF patients include:
- Cystic Fibrosis-Related Diabetes (CFRD)
- Chronic sinus and lung infection
- Gastroesophageal Reflux Disease (GERD)
- Constant coughing; asthma, wheezing, and shortness of breath
- Bone Disease (fracture, osteopenia or osteoporosis)

Cystic fibrosis (CF) was first recognized as a clinical entity in 1938. Its genetic nature and autosomal recessive inheritance pattern were described in 1946. In 1948, patients with CF were observed to lose excess salt in their sweat which led to development of the chloride sweat test (a diagnostic test still in use). Documentation of clinical manifestations (pancreatic insufficiency and bacterial endobronchial infections) over the next 3 decades resulted in earlier diagnosis. In the 1980s, problems in epithelial chloride transport were linked to CF. In the late 1980s, elevations in pancreatic immunoreactive trypsinogen (IRT) in newborn blood were associated with CF. Finally, in 1989, DNA mutations associated with CF were identified on chromosome 7. The gene product was called the cystic fibrosis transmembrane conductance regulator (CFTR). During the 1990s, major insights were gained into the function of CFTR and the pathophysiology of CF. Dramatic improvements in early diagnosis and treatment have followed close behind.
Initial screening of newborn bloodspots measures IRT. This pancreatic exocrine product is significantly elevated in over 90% of affected newborns. An elevated IRT should prompt additional genetic evaluation or sweat testing to confirm the diagnosis. If the patient being screened had meconium ileus or other bowel obstruction, IRT screening is not reliable and additional screening or diagnostic tests should be considered as indicated.
Early diagnosis by newborn screening has allowed earlier combined anti-inflammatory and antibiotic therapies to combat upper respiratory infections and nutritional supplementation to avoid nutritional deficits. Dramatic progress has been made in improving quality of life for these newborns.
Because the diagnosis and therapy of cystic fibrosis is complex, the pediatrician is advised to manage the patient in close collaboration with a consulting pediatric pulmonologist. It is recommended that parents travel with a letter of treatment guidelines from the patient’s physician.
This disorder most often follows an autosomal recessive inheritance pattern. With recessive disorders affected patients usually have two copies of a disease gene (or mutation) in order to show symptoms. People with only one copy of the disease gene (called carriers) generally do not show signs or symptoms of the condition but can pass the disease gene to their children. When both parents are carriers of the disease gene for a particular disorder, there is a 25% chance with each pregnancy that they will have a child affected with the disorder.

1. Research Cystic Fibrosis (CF) and answer the following questions in your own words:
· How common is CF?
· Is CF common among all racial groups? Is there a predisposition for some ethnic groups to have CF over others?
· How likely is it for one CF carrier to meet/marry another CF carrier?
· What are the signature symptoms of CF?
· How does CF affect an individual’s quality of life?

Significant differences (Table 2) were found between the groups under study for the distribution of lung pathogens (p = 1.75×10−6, 88% of CF patients with pathogens), with predominance of Pa, and MI (p = 0.0015, 24% of CF patients with MI).
Altogether, these data indicate that our approach to measure the level of CFTR (dys)function in rectal biopsies provides data evidencing good correlation with the CF severity.
Evaluation of the Best Tool for Discriminating CF Patients from Non-CF Individuals
Following the above findings, we attempted to establish a CF diagnosis tool which could also serve for disease prognosis. We thus used a stepwise discriminant analysis to evaluate which one(s) among the clinical and laboratory measurements available (sweat-Cl−; FEE; BMI; SK score; FEV1; Isc-IBMX/Fsk; and Isc-CCH(IBMX/Fsk)), constitutes the best discriminator factor between patients with Classic and Non-Classic CF and also between these groups and non-CF individuals (see Methods). As shown in Fig.4, discriminant function 1 (x-axis) corresponding to CFTR-mediated Cl− secretion measurements in rectal biopsies under CCH (Isc-CCH(IBMX/Fsk)) is the best option to explain the differences between the three groups in 90.4% of cases (Tables S4, S5). Additionally, FEE concentration and sweat-Cl− correspond to discriminant function 2 (y-axis) enabling separation of an additional ~6% of the remainder individuals (Tables S4, S5). Notwithstanding, four Non-Classic CF patients were still misclassified as Classic CF (Fig.4, black diamonds with dotted circles). Furthermore, to translate this discriminant analyses into a diagnosis algorithm, we have obtained its respective Fisher’s linear classification functions as:
Analysis performed for individuals having complete information about Isc-CCH(IBMX/Fsk), FEE concentration in stools and sweat-Cl− (n = 75): Classic CF (filled triangles, n = 47); Non-Classic CF (filled diamonds, n = 11); and non-CF (open circles, n = 17). Misclassified cases are marked with dotted circles. Grey squares represent the group centroids and grey lines the barriers between each group. * according to consensus criteria , , .

Vertical dashed grey line represents addition of one STD of the mean value calculated for Isc-IBMX/Fsk in reference sub-group of Non-Classic CF patients (ΔIsc = −22.60 µA/cm2). Classic CF (filled triangles, n = 55); Non-Classic CF (filled diamonds, n = 12); CFTR-RD (star, n = 2) and Non-CF (open circles, n = 26) individuals.
Correlations between CF clinical features and CCH-induced short circuit currents following IBMX/Fsk application (Isc-CCH (IBMX/Fsk)). Scatter-plot summarizing the distribution of Isc-CCH (IBMX/Fsk) against (A) Body Mass Index; (A) Body Mass Index distributed by groups of ages; (C) Shwachman–Kulczycki clinical scores; and (D) forced expiratory volume in 1 second (FEV1) expressed as a percentage of predicted normal values for sex, age, and height (% predicted).Vertical dashed black line represents subtraction of one standard deviation (STD) of the mean value calculated for CCH induced-ΔIsc following IBMX/CCH application (ΔIsc = −78.77 µA/cm2) in non-CF controls. Vertical dashed grey line represents addition of one STD of the mean value calculated for CCH stimulated-ΔIsc following IBMX/CCH application (ΔIsc = −39.55 µA/cm2) in reference sub-group of Non-Classic CF patients. Classic CF (filled triangles, n = 55); Non-Classic CF (filled diamonds, n = 12); CFTR-RD (star, n = 2) and Non-CF (open circles, n = 26) individuals.
Overview of data for all CF patients in the reference group (Table S1a) and in the CF-suspicious group (Table S1b): genotypes, clinical phenotypes and Ussing chamber measurements, leading to confirmation/exclusion of a CF Diagnosis.
CFTR mutations found in individuals under study. Gene and protein localization, mutation classification and frequency from the present study are designated. Traditional and HGVS standard nomenclature for CFTR mutations are also indicated.

To find a new topic, click on a letter in the navigation bar above to take you to a list of topics beginning with that letter. Cystic Fibrosis
What Is Cystic Fibrosis?
Cystic fibrosis (CF) is an inherited disease of your mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs.
A young cystic fibrosis patient undergoes a sweat test, which is an important diagnostic and therapy-monitoring tool. Photo courtesy of Singeli Agnew for the Cystic Fibrosis Foundation and the National Center for Research Resources.
Normally, mucus is watery. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. But in CF, an abnormal gene causes mucus to become thick and sticky. The mucus builds up in your lungs and blocks the airways. This makes it easy for bacteria to grow and leads to repeated serious lung infections. Over time, these infections can cause serious damage to your lungs. The thick, sticky mucus can also block tubes, or ducts, in your pancreas. As a result, digestive enzymes that are produced by your pancreas cannot reach your small intestine. These enzymes help break down the food that you eat. Without them, your intestines cannot absorb fats and proteins fully. As a result:
- Nutrients leave your body unused, and you can become malnourished.
- Your stools become bulky.
- You may not get enough vitamins A, D, E, and K.
- You may have intestinal gas, a swollen belly, and pain or discomfort.
The abnormal gene also causes your sweat to become extremely salty. As a result, when you perspire, your body loses large amounts of salt. This can upset the balance of minerals in your blood. The imbalance may cause you to have a heat emergency.
CF can also cause infertility (mostly in men). The symptoms and severity of CF vary from person to person. Some people with CF have serious lung and digestive problems. Other people have more mild disease that doesn't show up until they are adolescents or young adults. Respiratory failure is the most common cause of death in people with CF. Until the 1980s, most deaths from CF occurred in children and teenagers.

Genetic Fact Sheets for Parents
Disorder name: Cystic Fibrosis
- What is CF?
- What causes CF?
- What are the symptoms of CF?
- What is the treatment for CF?
- What happens when CF is treated?
- What causes the CFTR protein to be absent or not working correctly?
- How is CF inherited?
- Is genetic testing available?
- What other testing is available?
- Can you test during pregnancy?
- Can other members of the family have CF or be carriers?
- Can other family members be tested?
- How many people have CF?
- Does CF happen more often in a certain ethnic group?
- Does CF go by any other names?
- Where can I find more information?
This fact sheet has general information about cystic fibrosis (CF). Every child is different and some of this information may not apply to your child specifically. Certain treatments may be recommended for some children but not others. If you have specific questions about CF and available treatments, you should contact your doctor.
What is CF?
Cystic fibrosis (CF) is an inherited condition that causes problems with lung function, and also, often, with digestion. CF causes thick, sticky mucus and fluids to build up in certain organs in the body, especially the lungs and the pancreas. When glands and organs in the body become blocked, their normal functions slow down or stop working well. This results in chronic health problems.In people with CF, the thickened mucus that lines the lungs and bronchioles can lead to repeated lung infections. In people who do not have CF, thin slippery mucus normally lines the nose and the tubes leading to the lungs. This mucus has the job of picking up bacteria, viruses and dirt from the air we breathe and moving them up and out of the lungs. The thick, sticky mucus found in people with CF can no longer do this job well. CF also reduces the immune cells’ ability to fight infections. People with CF develop chronic coughing and recurrent lung infections.
In addition to lung problems, many children with CF also have 'pancreatic insufficiency' . The pancreas is an organ behind the stomach. One of its jobs is to make special digestive enzymes that break down the food we eat into nutrients small enough to get into the blood. If the pancreas is blocked, the enzymes cannot get to the small intestine to do their job.

Cystic Fibrosis (CF) is caused by ~1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl−) channel expressed in several epithelia. Clinical features are dominated by respiratory symptoms, but there is variable organ involvement thus causing diagnostic dilemmas, especially for non-classic cases.
To further establish measurement of CFTR function as a sensitive and robust biomarker for diagnosis and prognosis of CF, we herein assessed cholinergic and cAMP-CFTR-mediated Cl− secretion in 524 freshly excised rectal biopsies from 118 individuals, including patients with confirmed CF clinical diagnosis (n = 51), individuals with clinical CF suspicion (n = 49) and age-matched non-CF controls (n = 18). Conclusive measurements were obtained for 96% of cases. Patients with “Classic CF”, presenting earlier onset of symptoms, pancreatic insufficiency, severe lung disease and low Shwachman-Kulczycki scores were found to lack CFTR-mediated Cl− secretion (<5%). Individuals with milder CF disease presented residual CFTR-mediated Cl− secretion (10–57%) and non-CF controls show CFTR-mediated Cl− secretion ≥30–35% and data evidenced good correlations with various clinical parameters. Finally, comparison of these values with those in “CF suspicion” individuals allowed to confirm CF in 16/49 individuals (33%) and exclude it in 28/49 (57%). Statistical discriminant analyses showed that colonic measurements of CFTR-mediated Cl− secretion are the best discriminator among Classic/Non-Classic CF and non-CF groups.
Determination of CFTR-mediated Cl− secretion in rectal biopsies is demonstrated here to be a sensitive, reproducible and robust predictive biomarker for the diagnosis and prognosis of CF. The method also has very high potential for (pre-)clinical trials of CFTR-modulator therapies.
Citation: Sousa M, Servidoni MF, Vinagre AM, Ramalho AS, Bonadia LC, Felício V, et al. (2012) Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis. PLoS ONE 7(10): e47708.

Recent studies also show that even though Cystic Fibrosis is lethal when you inherit two of these mutated genes, there may be some evolutionary benefit to the carriers of this gene because if there were no selective advantage to the gene, it would have disappeared thousands of years ago.
And necessity is the mother of invention and humor as parents have turned to innovative ways to raise funds for research. Another infant aged 18 months showed widening of the pancreatic ducts and a necrotic parenchyma. The cases where pancreatic disease seems to have been a major factor are reviewed; in particular the author draws attention to a paper by Nakamura.
Ten children with gastroenteritis were found at autopsy to have histological changes in the pancreas with inflammation causing sclerosis with possible blockage of the main pancreatic duct of Wirsung.
Cystic fibrosis is a disease in which a mutated gene causes a thick and sticky mucus to be produced, resulting in mucus build up in the lungs and digestive tract.A Brief History of Cystic Fibrosis 0.
Though European folklore and literature from the 18th century warned, “Woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon must die,” the condition was not formally described until the s. Cystic fibrosis is most common among people of Northern European heritage, affecting one of every 3, newborns.
It is least common in people of African or Asian descent and affects women only slightly more than men. As a current student on this bumpy collegiate pathway, I stumbled upon Course Hero, where I can find study resources for nearly all my courses, get online help from tutors 24/7, and even share my old projects, papers, and lecture notes with other bsaconcordia.coms: 3.
Cystic Fibrosis Chapter 7 70 What we are learning about this disease Pathophysiology, causes: genetic, environment, microbes Cystic fibrosis was referred to in medieval folklore, which mentions infants with salty skin who were considered “bewitched” because they routinely died an early death.
Salty skin is now recognized as a sign of CF.
The early years - "cystic fibrosis" by any other name From the midth century there were many reports of infants who may well have had cystic fibrosis by the nature of their clinical signs and course. There are approximately 30, Americans that have CF with about 1, new cases per year.

Overall, based on CFTR-mediated Cl− secretion in the colon and subsequent confirmatory CF diagnostic testing (sweat Cl−, CFTR genotypes and clinical outcomes (data on Table S1-b), we could classify the individuals in the “CF suspicion:” group (n = 49) as: Classic CF (n = 9), Non-Classic CF (n = 7), CFTR-RD (n = 2) and Non-CF (n = 26). As to the 5 individuals showing inconclusive Ussing chamber measurements, one individual had one CF-disease causing mutation (G542X) and two individuals had RD-related mutations (V562I and G576A). As we could not confirm/exclude CF in these 5 individuals, they were not included in the hereunder correlations.
Functional classification of rarer mutations also results from these analyses, namely (Table S1): 3120+1G>A as class I (2 siblings with 3120+1G>A/R1066C, absence of CFTR-function and severe phenotypes); 1716+18672A>G as class V (2 other siblings with F508del/1716+18672A>G, residual CFTR function −28–34%- and mild CF); I618T as class IV (in a patient with G542X/I618T, 37% CFTR function and mild disease); and L206W as class IV or CFTR-RD mutation (in a patient with F508del/L206W and the highest CFTR function −57%- and very mild disease).
Correlation between CFTR-mediated Cl− Secretion and Clinical Outcomes
In order to assess the value of CFTR-mediated Cl− secretion in rectal biopsies as a predictive tool for CF, we attempted to statistically correlate these values with the accepted CF-characteristic parameters (Table 1, see also Methods S1), namely: sweat [Cl−] (Fig.2A, S3A); FEE (Fig.2B, S3B); BMI (Fig.2C, S3C, S4A); and age at diagnosis (Fig.3A, S3D).

What is Cystic Fibrosis?
Cystic Fibrosis is a genetic disorder that causes severe damage and infection to the lungs, gastrointestinal tract and sweat glands. It is a condition that affects the cells that produce mucus, sweat and digestive juice. Usually, the mucus is thin and slippery, but due to the condition of Cystic Fibrosis, the mucus becomes thick and sticky.
The thick mucus results in trouble breathing as the mucus blocks the airways. Over time the mucus fills inside the airways leading to the cause of infection.
What causes Cystic Fibrosis?
Cystic Fibrosis disorder occurs because of a defect in the gene. It is hereditary. The defect or mutation in CFTR (cystic fibrosis transmembrane conductance regulator) gene causes Cystic Fibrosis. The defective genes affect the cells producing mucus, thus, making them thick and sticky.
What are the symptoms of Cystic Fibrosis?
The symptoms always vary with the severity of the disorder. Pay attention to the following symptoms:
- Trouble breathing
- Frequent lung infections
- Blockage in the nasal passage
- Sinus infection
- Persistent coughing
- Constipation or Diarrhoea
How is Cystic Fibrosis diagnosed?
The Cystic Fibrosis diagnosis method uses different tests that include the following.
In newborns, the CF is diagnosed through newborn screening so that treatment can begin immediately. Sweat tests and blood tests are the two tests to check for Cystic Fibrosis in newborn children.
A blood test helps to check the immunoreactive trypsinogen (IRT). People affected with Cystic Fibrosis have a high level of IRT.
Sweat tests can also determine whether the individual has Cystic Fibrosis. It helps to measure the salt in sweat. The sweat test is the commonly used test to diagnose Cystic Fibrosis. In people with Cystic Fibrosis, the rate of salt in the body is higher than normal.
A genetic test is carried out to check the genes that cause Cystic Fibrosis. Blood samples will be collected and sent for further examination to check for Cystic Fibrosis. A genetic test can also be performed to check for the mutations in the CFTR genes.
What are the treatments for Cystic Fibrosis?
There is no cure for Cystic Fibrosis.

Today, with improved treatments, people with CF live, on average, to be more than 35 years old.
Cystic fibrosis (CF) is caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene makes a protein that controls the movement of salt and water in and out of the cells in your body. In people with CF, the gene does not work effectively. This causes the thick, sticky mucus and very salty sweat that are the main features of CF.
Image courtesy of Celia Hooper, Journal of NIH Research, Nov-Dec. 1989.
Each of us inherits two CFTR genes, one from each parent.
- Children who inherit an abnormal CFTR gene from each parent will have CF.
- Children who inherit an abnormal CFTR gene from one parent and a normal CFTR gene from the other parent will not have CF. They will be CF carriers.
- Usually have no symptoms of CF
- Live normal lives
- Can pass the abnormal CFTR gene on to their children
When two CF carriers have a baby, the baby has a:
- One in four chance of inheriting two abnormal CFTR genes and having CF.
- One in four chance of inheriting two normal CFTR genes and not having CF or being a carrier.
- Two in four chance of inheriting one normal CFTR gene and one abnormal CFTR gene. The baby will not have CF but will be a CF carrier like its parents.
Who is at Risk
About 30,000 people in the United States have cystic fibrosis (CF).
- It affects both males and females.
- It affects people from all racial and ethnic groups but is most common among Caucasians whose ancestors came from northern Europe.
CF is one of the most common inherited diseases among Caucasians. About 1 in every 3,000 babies born in the United States has CF. CF is also common in Latinos and Native Americans, especially the Pueblo and Zuni. CF is much less common among African Americans and Asian Americans.
About 12 million Americans are carriers of an abnormal CF gene. Many of them do not know that they are CF carriers.
Image courtesy of NHLBI.
Signs and Symptoms
Most of the symptoms of cystic fibrosis (CF) are caused by the thick, sticky mucus.

Classic CF = 0.317(Sweat Chloride) +0.005(Fecal Elastase) +0.012(Isc-CCH(IBMX/Fsk)) –18.909.
Non-Classic CF = 0.338(Sweat Chloride) +0.028(Fecal Elastase) −0.015(Isc-CCH(IBMX/Fsk)) –28.485.
Non- CF = 0.202(Sweat Chloride) +0.026(Fecal Elastase) −0.102(Isc-CCH(IBMX/Fsk)) –23.414.
These allow classification of a new CF suspicion case by replacing in these 3 equations the values from laboratory measurements obtained for a given individual. The function giving the highest value will correspond to the CF classification group best describing the individual.
The wide spectrum of CF phenotypes, high variability of CF lung disease, the uncertain (dys)function of many rare CFTR mutations together with increasing numbers of asymptomatic patients identified in recent newborn CF screens, have posed major challenges to clinicians for the establishment of CF diagnoses and prognosis , , . Such hurdles make it difficult for caregivers to provide adequate genetic counselling and medical care, risking worsening of symptoms and organ damage.
Good Correlations between CFTR-mediated Cl− Secretion and CF Parameters
To evaluate the robustness of colonic CFTR-mediated Cl− secretion as a diagnosis/prognosis biomarker and thus help overcoming such difficulties, we assessed CFTR (dys)function ex vivo in 524 rectal biopsies from 118 individuals, including the largest cohort of CF patients ever analysed by this approach (n = 51), a non-CF (control) group (n = 18) and individuals with clinical CF suspicion to confirm/exclude a CF diagnosis (n = 49). The functional data, demonstrating good correlations with most CF-defining parameters, have also provided key information to adjust the clinical judgment of a CF diagnosis and prognosis.
Our approach consists in direct measurements of colonic CFTR function assessed through both cAMP-dependent and cholinergic Cl− secretion which, as previously shown , , , are strictly dependent on the presence of functional CFTR.

There are no data to weight the significance of particular symptoms or construct receiver operating curves, but the common diagnostic features of PCD are listed in table 1 as a guide. A combination of upper and lower airway symptoms is usual.
Conventional diagnostic clues
Heterotaxy (usually mirror image organ arrangement) on antenatal ultrasound scanning should lead to consideration of the diagnosis, although most babies with mirror image arrangement do not have PCD.
Presentation in the newborn period
Continuous rhinorrhoea from the first day of life; this is highly likely to be due to PCD
Respiratory distress or neonatal pneumonia with no obvious predisposing cause
Mirror image arrangement (but see “Antenatal presentation” above)
Diagnosis by screening because of a positive family history
Presentation in childhood
Chronic productive or “wet” cough. Clearly, other causes such as cystic fibrosis (CF) will likely need to be ruled out first by appropriate testing, before referral for ciliary function, unless the child also has mirror image arrangement or other features suggestive of PCD. Isolated dry cough is not likely to be due to PCD.
Atypical “asthma”, non-responsive to treatment, especially if a wet-sounding cough is present
“Idiopathic” bronchiectasis. Diagnosis of bronchiectasis by screening because of a positive family history of PCD. This accounted for 10% of cases in one series.2
Rhinosinusitis. Daily rhinitis is typical, without remission, and sometimes in older children severe sinusitis despite multiple surgical procedures; nasal polyps are rare, and more commonly due to CF.
Otitis media with effusion (OME). Typically, if tympanostomy (ventilation tubes) are inserted, there is usually a prolonged smelly ear discharge for weeks not responding to treatment and with no improvement in hearing.

He had suffered chronic ill health from childhood with poor growth and bronchiectasis, situs invertus and sinusitis – a syndrome described by Kartagener in 1933 (Kartagener M. Beitr Klin Tuberk 1933; 83:489) .
1974 Burnell RH,
Robertson EF. Cystic fibrosis in a patient with Kartageners Syndrome. Am J Dis
Child 1974; 127:746-747. [PubMed]
A report from Adelaide Children’s Hospital, Australia. Said to be the third report of this combination with Kartageners syndrome of situs inversus totalis, bronchiectasis, and recurrent sinusitis with or without nasal polyps (figure 1). A white boy aged six months had “bronchopneumonia and neglect”. The lowest sweat electrolyte values were sodium 96 and chloride 80 meq/l. The duodenal biopsy showing partial villous atrophy which was rather puzzling and not discussed by the authors. The similarity of the symptoms of the two conditions, CF and Kartagener’s, is discussed. The two previous cases were doubtful. The authors advise excluding CF in all people with Kartagener’s syndrome. (Also Brown & Smith, 1959 above),
1993 Phillips RJ,
Crock CM, Dillon MJ, Clayton PT, Curran A, Harper JI. Cystic fibrosis presenting
as kwashiorkor with florid skin rash. Arch Dis Child 1993; 69:446-448. [PubMed]
Two infants with a florid erythematous rash and generalised oedema, hypoalbuminaemia, and anaemia were found to have cystic fibrosis. This rare presentation is associated with false negative sweat tests, delays in diagnosis, and a considerable mortality. The authors suggested that this presentation represents a manifestation of kwashiorkor secondary to intestinal malabsorption.
1986 Orenstein DM,
Wasserman AL. Munchausen syndrome by proxy simulating cystic fibrosis. Pediatrics
1986; 78:621-624. [PubMed]
Professor Sir Roy Meadow described Munchausen by proxy in 1977 (Meadow R. Munchausen syndrome by proxy. The hinterland of child abuse.

Cystic Fibrosis is a inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body,
The disorder the cells the produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery, but people with cystic fibrosis, a defective gene causes, the secretions to become sticky and thick. instead of acting like a lubricant the secretions plug up tubes, ducts and passageways in the lungs and pancreas.
This disorder requires daily care, most patients can attend school, work and have a better quality of life than they would have decades ago.
Screening newborns for cystic fibrosis is now performed in every state in the United States.
People with cystic fibrosis have a higher than normal level of salt in their sweat, Adult diagnosed with cystic fibrosis are more likely to have atypical symptoms such as recurring bouts of inflamed pancreas (pancreatitis) infertility and recurring pneumonia.
Some symptoms are a persistent cough that produces this mucus, Wheezing, Breathlessness, Exercise intolerance, repeated lung infections, inflamed nasal passages or a stuffy nose.
Digestive symptoms are foul-smelling greasy stools, Poor weight gain and growth, intestinal blockage, severe constipation.
Cause is heredity, most likely Northern European Ancestry.
Complications of this disorder, Damaged airways, chronic infections, growths of polyps in the nose, coughing up blood, pneumothorax, respitory failure, acute exacerbations, Nutritional deficiencies, Diabetes, Blocked bile duct, intestinal obstruction, Distal intestinal obstruction syndrome , Osteopororis, electrolyte imbalance and dehydration.
There is a new product invented by Marten Devlieger and the Vest invented allows patients with Cystic Fibrosis to retrieve treatment on the go. @thecfsorceress, www.hill-rom.com Name of Vest is the Monarch.
Marten’s journey with Cystic fibrosis and how he is helping others live better with their disease.
Marten lives life to the fullest and wants others to do the same. He was so empowered by his love for life and wanting to do all the things he enjoyed, but one problem, he had to stop for treatments, This being said Marten invented the Monarch. A portable vest that allows Marten and others to go on there adventures and be able to give them selves treatment portably.

- Patient Comments: Cystic Fibrosis - Describe Your Experience
- Patient Comments: Cystic Fibrosis - Symptoms
- Patient Comments: Cystic Fibrosis - Risk
- Cystic fibrosis facts*
- What is cystic fibrosis?
- What are other names for cystic fibrosis?
- What causes cystic fibrosis?
- Is cystic fibrosis inherited?
- Who is at risk for cystic fibrosis?
- What are the signs and symptoms of cystic fibrosis?
- How is cystic fibrosis diagnosed?
- How is cystic fibrosis treated?
- Living with cystic fibrosis
- What is the outlook for cystic fibrosis?
What is the outlook for cystic fibrosis?
The symptoms and severity of CF vary. If you or your child has the disease, you may have serious lung and digestive problems. If the disease is mild, symptoms may not show up until the teen or adult years.
The symptoms and severity of CF also vary over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you'll have more severe symptoms more often.
Lung function often starts to decline in early childhood in people who have CF. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF.
As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties or fifties, or longer.
Early treatment for CF can improve your quality of life and increase your lifespan. Treatments may include nutritional and respiratory therapies, medicines, exercise, and other treatments.
Your doctor also may recommend pulmonary rehabilitation (PR). PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.
Medically reviewed by James E Gerace, MD; American Board of Internal Medicine with subspecialty in Pulmonary Disease
"Cystic Fibrosis." NIH National Heart, Lung, and Blood Institute. 1 June 2011.

Chemicals and Compounds
All chemicals (highest available purity) were from Sigma-Aldrich® (St Louis, MI, USA) or Merck® (Darmstadt, Germany) except for culture media (GIBCO®/Invitrogen, Carlsbad, CA, USA). Fecal Elastase E1 test was from Schebo ® Biotech AG (Giessen, Germany).
For statistical analyses the SPSS software/v.19 (Chicago, IL, USA) was used and a p-value <0.05 was considered statistically significant. Unless otherwise stated, data are mean ± STD (n, number of individuals studied). Details of the statistical analysis for Pearson correlations, Chi-square and discriminant analyses are described under Methods S1.
Subjects Under Study and Overview of Clinical Data
The clinical diagnosis of CF was established based on consensus clinical criteria , , namely: 1) presence of one or more characteristic phenotypic features (chronic sinopulmonary disease; gastrointestinal/nutritional abnormalities; obstructive azoospermia or salt-loss syndrome) and 2) evidence of a CFTR abnormality (increased sweat [Cl−] (>60 mEq/L) and/or detection of two CF-disease causing mutations). Using these criteria and the current CF classification terminology , two different sub-groups of CF patients (n = 51) were established (detailed clinical data in Table S1): (a) Classic CF patients (n = 46) presenting a severe phenotype and classic disease manifestations (high sweat-Cl−; PI; nutrition deficiencies; chronic sinopulmonary disease); and (b) Non-Classic CF patients (n = 5) with an atypical phenotype and showing a milder disease (pancreatic sufficiency-PS; adulthood diagnosis; less serious lung involvement; and at least one organ with CF phenotype).
A third group included individuals with a clinical suspicion of CF (n = 49) of which 27% had only one abnormal sweat-Cl− value; others presented borderline (22%) or normal (20%) sweat-Cl− values (see Methods); and 31% had not been tested for sweat-Cl− at the time. Most of these individuals (69%) had inconclusive genetic testing (20% had only one CF-disease causing mutation identified) and the remainder had not been CFTR-genotyped at the time (Table S1).

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Fibrosis is the formation of excess fibrous tissues or scar tissue, usually because of injury or long-term inflammation. The two most well-known types of this condition are pulmonary fibrosis, which affects the lungs; and cystic fibrosis (CF), which affects the mucus glands. There also are many other types, including those that affect the heart, skin, joints and bone marrow. Cirrhosis of the liver also is a type of this condition.
There are many potential causes of this condition. It is sometimes caused by disease or the treatment of a disease. Other causes include injuries, burns, radiation, chemotherapy and gene mutation. Some types of this condition are idiopathic, which means that the causes are unknown.
Fibrosis causes the affected tissues to harden. They sometimes also swell. These changes can make the tissues unable to function properly. For example, the flow of fluids through the affected tissues is often reduced. When the condition is present in the lungs, they are unable to expand as normal, causing a shortness of breath.
In the lungs, this condition is called pulmonary fibrosis, and it involves the overgrowth, hardening and/or scarring of lung tissue because of excess collagen. In addition to shortness of breath, the common symptoms include a chronic dry cough, fatigue, weakness and chest discomfort. A loss of appetite and rapid weight loss also are possible. This condition usually affects people between the ages of 40 and 70, and men and women are equally affected. The prognosis for patients with this disease is poor, and they usually are expected to live an average of only four to six years after diagnosis.
Another common form of this condition is CF, a chronic, progressive and often fatal genetic disease of the body's mucus glands. Symptoms sometimes include abnormal heart rhythms, malnutrition, poor growth, frequent respiratory infections and breathing difficulties. This condition can also cause other medical problems, including sinusitis, nasal polyps and hemoptysis, or the coughing of blood. Abdominal pain and discomfort, gassiness, and rectal prolapse also are possible.
CF primarily affects the respiratory and digestive systems in children and young adults. The symptoms are often apparent at birth or shortly thereafter; rarely do the signs not show up until adolescence. It is most commonly found in Caucasians, and the prognosis is moderate, with many patients living for as long as 30 years after diagnosis.

September 27, 2007
One out of every 3500 newborns will be diagnosed with CF or cystic fibrosis at some point in their life. Affecting primarily the respiratory and GI tracts, it's a disease usually identified in young infants and children. But many times a patient can reach adulthood before ever getting the diagnosis. Dr. Mom brings us the story of one family this happened to.
What is Cystic Fibrosis (CF)?
What are the symptoms of CF?
CF is an inherited disease that can affect most every system in the body, especially the lungs and digestive system. Approximately 1,000 new cases of CF are diagnosed each year. In the early 1950's very few children lived to school age. However, with early diagnosis and advances in treatment, the median age of survival is now 37 years of age.
Other symptoms may also include:
- Very salty tasting skin
- Persistent cough, at times with phlegm
- Frequent chest and sinus infections with recurring pneumonia or bronchitis
- Wheezing or shortness of breath
- Poor growth, poor weight gain
- Frequent greasy, malodorous, bulky stools
- Blockage in the bowels
- Enlargement or rounding (clubbing) of the fingertips and toes. Although clubbing eventually occurs in most people with cystic fibrosis, it also occurs in some people born with heart disease and other types of lung problems.
- Protrusion of part of the rectum through the anus (rectal prolapse). This is often caused by stools that are difficult to pass or by frequent coughing.
Testing for CF
- Growths (polyps) in the nasal passages
- Cirrhosis of the liver due to inflammation or obstruction of the bile ducts
- Displacement of one part of the intestine into another part of the intestine (intussusception) in children older than age 4
- Aspermia or the lack of sperm in males
- Genetic carrier testing - This test can help detect carriers of the defect CF gene. To have CF, a child must inherit one copy of the defective gene from each parent.
- Sweat Test - this is a simple, painless test that measures the concentration of salt in a personâ€™s sweat.
- Newborn screening - many states require newborns to be screened for CF. However, Texas does not require newborn screening for CF.

Jan 19, 2020 | by Nancy Newbrough
My 16-year-old son seemed normal in every way until he was about four years old. He had stopped gaining weight and had a cough. Doctors could not find anything, but our concerns continued to grow.
At six years, he would have bad coughing fits and then sleep for some time. I took him to the ER after a particularly bad episode, but the doctors had no answers. So we took him to an asthma/allergy specialist. During a visit, the nurse looked at his fingers and asked questions. Moments later the doctor came in, looked at his nails and suggested that he may have cystic fibrosis. Abnormal rounding of the nail beds is one of the signs.
Cystic fibrosis is a rare genetic disease for which there is no cure. It primarily affects the lungs, but also the digestive system. CF occurs when there is a recessive gene from both the father and the mother. Neither of us knew of anyone in our families having the disease.
A specialist confirmed the diagnosis. This disease affects about 30,000 people in the United States. Current life expectancy is only 37-40 years old, though some live much longer.
Nebulizer breathing treatments began, one in the morning and two different ones in the evening. A machine called a Vest provides a treatment that basically vibrates his lungs. Each breathing treatment takes approximately 20 minutes and the Vest treatment is an additional 20 minutes in the evening. The goal is to loosen the mucus in the lungs so it can be coughed up. Mucus in the lungs that never goes away and is constantly growing is the main symptom of CF.
At the time of diagnosis, my son had not gained any weight in several years and his BMI was about 25%. Because CF also affects the digestive system, the doctor put him on enzymes. CF does not allow the body to produce proteins that break down the fat and vitamins in food so they can be absorbed -- which is why he had not been gaining weight. The enzymes enable his body to do that.
My son was hospitalized for the first time in May, 2014. His lung function had dropped to 64% and he needed IV treatment. Called “tune-ups,” this is a common occurrence for people with CF. Since then, my son has been admitted four times.

Children require to inherit one copy of the gene from every parent to have this disease. If children inherit only one copy, they would not cause cystic fibrosis. However, they will be carriers and probably carry the gene to their own children.
Cystic Fibrosis Complications
There are many complications of Cystic Fibrosis. They are given below accordingly
Diagnosis of Cystic Fibrosis
Cystic fibrosis diagnosis are given below
1) Newborn screening and diagnosis
2) Testing of older children and adults
Cystic Fibrosis Treatment
There is no cure for cystic fibrosis, but the treatment of cystic fibrosis can ease symptoms and decrease problems. Close checking and early, aggressive intervention are suggested. Controlling cystic fibrosis is difficult, so consider obtaining cystic fibrosis treatment at a center staffed by doctors and other staff trained in cystic fibrosis. Doctors may do with a multidisciplinary team of doctors and medical professionals trained in cystic fibrosis to evaluate and treat the situation. The aims of cystic fibrosis treatment contain:
1) Preventing and controlling infections that happen in the lungs
2) Eliminate and loosening mucus from the lungs
3) Treating and preventing intestinal blockage
4) Offering sufficient nutrition

doi:10.1371/journal.pone.0047708
Editor: Dominik Hartl, University of Tübingen, Germany
Received: June 2, 2012; Accepted: September 14, 2012; Published: October 17, 2012
Copyright: © Sousa et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Funding: This work was supported by grants TargetScreen2 (EU/FP6/LSH/2005/037365), PIC/IC/83103/2007; PTDC/MAT/118335/2010; PEstOE/BIA/UI4046/2011 (to BioFIG) and PEstOE/MAT/UI0006/2011 (to CEAUL) from FCT (Portugal); and FAPESP (SPRF, Brazil), CNPq (40.8924/2006/3, Brazil) and Mukoviszidose e.V. S02/10 (Germany). MS and IU are recipients of SFRH/BD/35936/2007 and SFRH/BD/69180/2010 PhD fellowships (FCT, Portugal), respectively. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Competing interests: The authors have declared that no competing interests exist.
Cystic Fibrosis (CF), the most common severe autosomal recessive disease in Caucasians, is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene – which encodes a cAMP-regulated chloride (Cl−) channel expressed at the apical membrane of epithelial cells to control salt and water transport . Clinically, CF is characterized by multiple manifestations in different organs, but is dominated by the respiratory disease, the main cause of morbidity and mortality. Airway obstruction by thick mucus and chronic infections, especially by Pseudomonas aeruginosa (Pa), eventually lead to impairment of respiratory function . Other CF symptoms include pancreatic insufficiency, intestinal obstruction, elevated sweat electrolytes and male infertility .

The classic presentation of pulmonary fibrosis is slowly progressing shortness of breath (“dyspnoea”) with a chronic non-productive (dry) cough. The shortness of breath is typically worse on exercise and exertion.
There are various other signs and symptoms though including:
> Fatigue & lethargy
> Loss of appetite
> Weight loss
> Chest pain
> Low grade fever & muscle pains
Diagnosing pulmonary fibrosis
Various tests can be performed in order to diagnose pulmonary fibrosis, these may include:
Spirometry (‘breathing and blowing tests’): these simple breathing tests may show a restrictive pattern with a reduced total lung volume.
Computed Tomography (CT) scan: this may also be called a HRCT, or high resolution CT scan. A CT scan shows more detail than a chest x-ray, but may not always be required.
Lung biopsy: A lung biopsy is an invasive procedure and not always required if there is clear evidence of pulmonary fibrosis on x-ray or CT.

Cystic fibrosis is a serious genetic disease that affects about 1 baby in Italy about 2,500. A trigger disease is a defect in the CFTR gene, which in our country would be present in 1 in 25. For each pregnancy, a pair of carriers has a 25% chance of having an affected paper.
There are various levels of disease severity, which may vary from person to person, depending on age of diagnosis and the type of CFTR gene mutation. Cystic fibrosis alters the secretions of the organs, making them more dense and less fluid. This damages the organs and causes gradually the loss of functionality. The most affected organs are the lungs and bronchi: the mucus stagnates in them, which causes more and more serious infections and inflammations. With time, the accumulation of disorders causes the body insufficiency.
Cystic fibrosis also affects other organs, in addition to those of the respiratory system. Seriously harms the pancreas, responsible for the reversal of the enzymes. The malfunctioning of the pancreas leads to digestive problems, malabsorption of nutrients and consequent growth problems. Often pancreatic problems evolve into a form of diabetes, with all the additional problems that arise. In addition, the bad functioning of CFTR can damage the intestine, liver and the vas deferens in men.
One of the major symptoms leading to the diagnosis of cystic fibrosis is salty sweat, caused by abnormally high levels of chlorine. Sick children also suffer from persistent cough, shortness of breath, frequent lung infections and failure to gain weight. In these cases it is provided with suitable DNA testing and analysis, for the presence of the disease.
For now lacking real cure against cystic fibrosis. There are treatments for the symptoms and, in case of early diagnosis, to slow the progress of the disease. Compared to 50 years ago, patients enjoy a higher quality of life and have higher growth prospects. Once a child with cystic fibrosis was struggling to get to school age, while the average today is around 40 years. The road to finding a cure is still long, but scientific research is making big steps forward.

Cystic fibrosis (CF) is the most common recessively inherited life limiting disease in the UK. Incidence rates are around 1 in 2500 live births and approximately 1 in 25 of the population is a carrier for the disease . There are approximately 9000 patients currently in the UK . CF mostly affects Caucasian populations; however, there are a significant number of cases amongst families from the Indian subcontinent and the Middle East. It is rare in Chinese, South East Asian and African-Caribbean ethnic groups.
The outlook for patients with CF has steadily improved over the years as a result of early diagnosis; more aggressive treatment; agreed standards of care which define assessment, monitoring, detection and treatment of complications; and the recommendation that care is delivered in specialist centres by a multidisciplinary team of trained health professionals experienced in the management of the condition . The proportion of adults with CF has increased dramatically and currently stands at 56% of the CF population . Median survival is 41.4 years and is predicted to be 50 years of age for infants born in 2000 .
CF is caused by a mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR). This results in dysfunction in the regulation of salt and water across the cell membranes of secretory epithelial cells and in thickened secretions in all organs with epithelial cells; hence CF is a multi-organ condition. Approximately 1500 different genetic mutations have been identified. The most common genotype which accounts for around 52% of cases is homozygote ΔF508, with F508 plus one other genotype accounting for approximately 39% of cases. Class I, II and III mutations are the most severe giving rise to more typical presentations of CF. Class IV and V mutations give rise to milder or atypical CF.

The treatment and medication aim to treat the symptoms and reduce the risk of developing other health complications.
Medications for Cystic Fibrosis
- Patients with Cystic Fibrosis are given antibiotics to treat lung infections and prevent them from recurring.
- Anti-inflammatory medicine works to reduce inflammation in the nasal passage and lungs.
- Mucus-thinning medications make the mucus thin so that it would leave the lungs without causing trouble. The medication also helps to increase lung function.
- Bronchodilators relieve or treat the mucus clogged in the air tubes that carry air to the lungs. This helps to increase the airflow.
- Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulators stabilize CFTR gene function.
Surgical treatments for Cystic Fibrosis
The treatment for Cystic Fibrosis is as follows,
Nasal and sinus surgery to clear the blockage in air tubes. Sinus surgery is performed to avoid the risk of developing Chronic Sinusitis.
Bowel surgery is necessary if there is a blockage in the bowel. So, bowel surgery helps to remove the blockage.
A lung transplant is necessary if there are severe breathing problems or lung infections. Cystic Fibrosis disorder is not cured by lung transplantation, but it helps ease the symptoms and the complications of Cystic Fibrosis.
Oxygen therapy becomes necessary when the oxygen level declines. The treatment is all about the inhale of pure oxygen to prevent the risk of high blood pressure in the lungs.
Noninvasive ventilation (breathing through a face mask) provides positive pressure in the lungs and airways to aid respiratory function. The treatment is usually carried out at night while sleeping and often combined with oxygen therapy. Here, positive pressure is provided by a mouth or nasal mask while breathing, thus clearing the airways.
What are the complications of Cystic Fibrosis?
Cystic Fibrosis is a life-threatening disorder. If untreated, the complication of Cystic Fibrosis can damage the pancreas. The thick mucus can block the pancreas ducts and results in poor digestion, and in the worst conditions, it can cause Diabetes.
In the same way, the mucus can get blocked in the liver, small intestine, large intestine, kidney, bladder and other organs. The consequences cause severe problems and hazards.
Prevention of Cystic Fibrosis is hard because the disease is inherited.

Am J Physiol 275(6 Pt 1): G1274–81.
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- 33. Cleveland RH, Zurakowski D, Slattery D, Colin AA (2009) Cystic fibrosis genotype and assessing rates of decline in pulmonary status. Radiology 253: 813–821. doi: 10.1148/radiol.2533090418
- 34. Pratha VS, Hogan DL, Martensson BA, Bernard J, Zhou R, et al. (2000) Identification of transport abnormalities in duodenal mucosa and duodenal enterocytes from patients with cystic fibrosis. Gastroenterology 118: 1051–1060. doi: 10.1016/s0016-5085(00)70358-1
- 35. Mall M, Kreda SM, Mengos A, Jensen TJ, Hirtz S, et al. (2004) The DF508 Mutation Results in Loss of CFTR Function and Mature Protein in Native Human Colon. Gastroenterology 126: 32–41. doi: 10.1053/j.gastro.2003.10.049
- 36. Knowles M, Gatzy J, Boucher R (1981) Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis. N Engl J Med 305: 1489–1495. doi: 10.1056/nejm198112173052502
- 37. Ho LP, Samways JM, Porteous DJ, Dorin JR, Carothers A, et al. (1997) Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis. Eur Respir J 10: 2018–2022. doi: 10.1183/09031936.97.10092018
- 38.

- By Cynthia Weiss
Mayo Clinic Q and A: Cystic fibrosis and COVID-19
DEAR MAYO CLINIC: My cousin has cystic fibrosis. After graduating from college last December, she moved across the country to take a new job. Now she lives with me. I have always been worried about her, but I am more concerned now that COVID-19 cases are rising in our area. Although I know coughing is common with her condition, every time I hear her cough, I worry it's COVID-19. Complicating the situation, since moving she has not found a health care provider who is comfortable treating cystic fibrosis. How can I help her remain well?
ANSWER: Cystic fibrosis is a genetic disease that causes abnormalities of mucus, sweat and digestive juices. Common signs include wheezing, recurrent lung or sinus infections, and difficulty gaining weight. It can lead to damage to the lungs, digestive system and other organs in the body.
It is estimated that 30,000 people are living with cystic fibrosis in the U.S. But, like your cousin, most of these people are usually able to attend school and work.
Although your cousin may be accustomed to her disease, it could be frightening for you, especially since cough and shortness of breath are signs of COVID-19 infection. She is lucky to have a family member who is concerned for her safety.
Encourage your cousin to identify an accredited cystic fibrosis center to establish care. Since cystic fibrosis is a disease that affects many organ systems, having access to a multidisciplinary group of health care providers who are well-versed in the disease can ensure she will have access to the latest therapies and best practices in treatment. This includes being evaluated for a liver or lung transplant, should her disease ever progress to that point.
Over the past few years, new medications have been developed that can dramatically improve lung function and overall well-being for most patients with cystic fibrosis. Also, these cumulative medical advances, coupled with attentive multidisciplinary care, have helped increase the life expectancy for patients with cystic fibrosis to an all-time high. This trend is anticipated to continue, and with consistent and appropriate care, your cousin can have a long, healthy life ahead of her.
Also, a cystic fibrosis center can help your cousin address any concerns, especially as the COVID-19 pandemic continues.

There are also some people who have been diagnosed with CF because of genetic test results, but who have very few symptoms of CF.
Over time, people with CF can have chronic health issues such as:
- Repeated bouts of bronchitis or pneumonias leading to permanent lung damage
- Collapsed lung, bleeding from the lungs, or lung failure
- Poor growth and poor weight gain due to malnutrition
- Chronic diarrhea
- Fatigue and anemia
- Males are usually sterile due to blocked or absent vas deferens (the tubes carrying the sperm from the testes to the penis). There are now techniques which allow some men with CF to father their own children.
- A small number of people with CF develop high blood sugar and may need insulin
- Some people with CF have bouts of pancreatitis, a painful inflammation of the pancreas
- Some people with CF develop liver disease over time
- Bone thinning, which can lead to osteoporosis, is seen in some people with CF
- Lung infection or permanent damage to the lungs is the main cause of death in people with CF
If treated appropriately, CF does not affect intelligence or the ability to learn. People with CF can attend regular school and should be able to achieve the same level of education as people who do not have CF. Many people with CF have finished college and have full-time jobs.
If left untreated, CF can cause serious chronic health effects that could lead to early death. Many of the symptoms of CF can be controlled with proper medication and treatment. It is important that you see your doctor and follow a treatment plan tailored for your child’s needs.
What is the treatment for CF?
Children and adults with CF are usually treated by a team of doctors and other health care providers who have experience with cystic fibrosis. These teams are often located in special CF treatment centers. There are many CF treatment centers located throughout the US. You can find a center in your area through the Cystic Fibrosis Foundation (www.cff.org)
The main goal of treatment is to keep your child’s lungs clear of thick mucus and to provide your child with the correct amount of calories and nutrients to keep him or her healthy.
Certain treatments may be advised for some children but not others. When necessary, treatment is usually needed throughout life. The following are treatments sometimes suggested for children with CF:
1.

Mean and standard error of the mean values for clinical parameters among the 3 groups of individuals analyzed in this study: Classic CF; Non-Classic CF and Non-CF.
Discriminant Functions: Eigenvalues and Wilk’s Lambda statistics.
Canonical Discriminant Functions used in the Analysis.
Cl- secretion in Rectal Biopsies.
Authors are grateful to all CF patients and healthy volunteers that kindly agree to participate in this study. Authors would also like to thank Célia Linhares (FibroCis) for coordinating patients’ contacts, Jaqueline for technical assistance with sweat test, Drs. Luciana Meirelles and Rita Carvalho for histological evaluation of the biopsies.
Conceived and designed the experiments: MS MFS ASR CSB AFR KK MDA. Performed the experiments: MS MFS AMV LCB ASR VF MAR IU AK SRC. Analyzed the data: MS. Contributed reagents/materials/analysis tools: FAM LS JDR CSB KK AFR MDA. Wrote the paper: MS MDA. Interpreted data: MFS ASR KK AFR MDA. Revised the article: MFS AFR KK.
- 1. Rommens JM, Ianuzzi MC, Kerem B, Drumm M, Melmer G, et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245: 1059–1065. doi: 10.1126/science.2772657
- 2. Kerem B, Rommens J, Buchanan J, Markiewicz D, Cox T, et al. (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073–1080. doi: 10.1126/science.2570460
- 3. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066–1073. doi: 10.1126/science.2475911
- 4. Rich DP, Anderson MP, Gregory RJ, Cheng SH, Paul S, et al.

One of the first symptoms of bronchiectasis is a continuous, persistent cough that can last for months, even years. This cough is a body self-defense to the enormous amount of sputum produced, which may contain mucus, other particles and, if an infection is present, pus.1
Other symptoms may include changes in the smell of the breath, paleness, shortness of breath that worsens with exercise, wheezing, chest pain, and clubbing of the fingertips. Clubbed fingertips result from tissue beneath the nail thickening, so that the fingertips become rounded and bulbous.
More serious symptom can develop with time, possibly the result of serious lung infection. These may include a bluish skin color and a blue tint to the nails and the lips, confusion, rapid breathing, and running a high temperature (38C /100.4F).2
When listening to the lungs with a stethoscope, a doctor will hear abnormal lung sounds such as a distinctive crackling noise when breathing in and out.3 These sounds reflect a buildup of fluid, mucus or pus in the small airways of the lungs.
Children with bronchiectasis may not grow at the same rate as other children, and/or may lose weight.
As the condition develops, or an infection sets in, people usually feel very tired and blood may be present in the sputum.
Signs of an infection include a more severe cough, with more mucus that is greener in color than usual and often with an unpleasant smell. People may also feel more tired and feverish, cough up blood, and experience sharp chest pain that worsens while breathing.
If lung infections are not treated on time and become severe, they may require hospitalization.
Bronchiectasis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Let us briefly list the symptoms of pulmonary hypertension;
- Feeling powerless
- Shortness of breath
- Chest Pain
- Squeezing in the chest
- Skin and lips turn bluish
- Oedema of the ankles
- Liver growth
- Abdominal swelling
Diagnosis of Pulmonary Hypertension
Pulmonary hypertension, which is usually diagnosed in the late stages of the disease, shows the same symptoms as many diseases. Therefore, it is one of the most difficult diseases to diagnose. As in all diseases, early diagnosis is very important in pulmonary hypertension. Because pulmonary hypertension shows the same symptoms as many diseases, a very detailed examination is required. As a result of the detailed investigations and examinations, the correct diagnosis should be made and treatment should be started as soon as possible.
Examinations for Diagnosis of Pulmonary Hypertension
- Blood analysis
- Transesophageal echocardiography
- Lung tomography
- Pulmonary function test
- Lung ventilation-perfusion scintigraphy
- 6-minute walk test
- Heart Catheter
- Pulmonary arteriography
Pulmonary Hypertension Treatment
There is no definitive treatment for pulmonary hypertension. However, with the treatments applied, it is aimed to minimize the complaints of the patient and to prevent the progression of the disease. In the case of a disease that is effective in the development of pulmonary hypertension, treatment of this disease is carried out first.
It is very important that the patient protects himself against respiratory infection. Therefore, it is recommended that patients with pulmonary hypertension stay away from people suffering from respiratory tract infection. Drugs used in the treatment process are aimed at preventing problems such as blood clotting and heart contractions. However, if the patient does not respond to all these medications and his condition worsens, heart or lung transplantation is the last resort.
What is it?
Cystic fibrosis (CF) is a genetic disease that is caused by the transmission of defective genes from the mother and father to the child. It is not contamination or subsequent illness.
Since the symptoms are similar to the common disorders in childhood, the patient may be delayed in diagnosis. If the course of the disease is not done well, mild symptoms may be replaced by organ involvement and may even result in death. Although lung involvement is an important factor determining the prognosis of the disease, malabsorption due to pancreatic involvement is also one of the factors affecting survival.

Hannah Buck, 6 and Hannah Moore, 2, both of St. Joseph, were diagnosed with cystic fibrosis, a chronic, progressive disease.
“Hannah is actually unaware of her prognosis,” said Vicki Buck, Hannah’s mother. “To her, it’s a pesky thing she lives with. My concern is how we deal with talking about the fact that it is life shortening, and we have to think about that.”
For two-year-old Hannah Moore, the realization that she’s different from other children won’t come for some time.
“She has to take medicine every time she eats, she takes breathing and physical therapy treatments twice a day, and she’s handling it fine,” said Sarah Moore, Hannah’s mom. “I don’t think she’ll know she has it until she’s in school and realizes everybody’s not taking those pills and everyone doesn’t have to stop playing and do their treatment.”
CF is a genetic disease that affects about 30,000 children and adults in the United States. Like most parents, the Bucks and the Moores could not find anyone with CF in their family’s past.
“Eighty percent of the time, people experience what we did,” Buck said. “They find out their child has CF, and they have no known cases in their family history. In some families, they have more than one child with CF. We have another daughter, and she tested negative for CF, but she could be a carrier. My husband and I are obviously carriers.”
Buck explains that it’s the luck of the draw when it comes to passing on an abnormal CF gene. CF occurs when children inherit two abnormal copies of the gene, one from each parent.
“One in 31 Americans is a symptom-less carrier,” she said. “If they started a family with another carrier, every child would have a one in four chance of having CF, a one in four chance of not having the CF gene, and a 50 percent chance of being a carrier.”
The disease has a number of symptoms. The most common is persistent coughing and breathing problems caused by the body’s production of thick, sticky mucus that clogs the lungs and harbors bacteria. The mucus also affects the pancreas, preventing enzymes from digesting food. Because of this, CF children are usually underweight.

“However, a lot of kids get missed because there are over 1,700 genetic mutations that could prompt CF, and most genetic tests only screen for the most common mutations.”
In order to have CF, a person needs to have inherited two copies of the defective gene—one copy from each parent—and both parents must have at least one copy of the defective gene.
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If people only have one copy of the defective CF gene, they are a carrier and can pass the disease onto their children, but they won’t develop it themselves. About 1 in 30 people in the United States are carriers, according to the American Lung Association.
“I’ve had a couple of patients who want to have children,” Dr. Mukadam says. If someone has known CF, doctors will screen their partner to see if they are a carrier for the disease. "If their partner doesn’t have a known CF gene mutation on carrier screening, their child will have a very low likelihood of having severe CF," he says. "However, their children will be carriers of the disease.”
Cystic fibrosis symptoms
CF can cause a wide range of symptoms, including breathing difficulties like wheezing and shortness of breath. According to the Cystic Fibrosis Foundation, people with CF can also have salty-tasting skin, as a result of sodium and chloride imbalances in the body.
Other symptoms of CF include chronic coughing and chest colds (which can include phlegm), frequent lung infections (including pneumonia or bronchitis), and digestive issues—like greasy and bulky stools, constipation, or other types of difficulty with bowel movements.
Children with CF may not meet growth or weight-gain milestones, despite having a good appetite. And most adult males with CF (about 98%) are infertile, meaning they’re not able to produce children without assisted reproductive technology.
How doctors treat CF right now
There is no cure for cystic fibrosis, but daily treatments can help patients manage symptoms and delay long-term damage. However, these treatments are extremely time-consuming: They often include taking 25 to 35 pills a day, as well as inhaled medications that relax and clear the airways.
“Patients might be on inhaled antibiotics that can take 45 minutes to one hour of treatments twice a day,” says Dr. Mukadam.

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Type 1 diabetes is the form most commonly found in children and accounts for almost 95 percent of all cases. However, this percentage may be misleading, as childhood diabetes is not a very common disease. While the origin of diabetes is still unclear, it most likely results from a combination of environment triggers and a genetic predisposition to high blood sugar.
Symptoms of Childhood Diabetes
- Excessive thirst
- Frequent urination
- Weight loss
- Stomach pains
- Behavioral problems
Treatment for Childhood Diabetes
Because childhood diabetes requires specialized care, most children are treated in a hospital setting. Insulin therapy is the most effective form of treatment for Type 1 diabetes in kids. Most children require both daily and nightly insulin injections. Young children typically start with just one injection per day, while older children have the option of forgoing injections in place of a continuous insulin pump.
Cystic fibrosis is a genetic disorder that primarily affects the lungs and digestive tract. Because of CF’s effect on the body’s respiratory system, children with this disease are prone to chronic lung infections. The organs and cavities in the human body’s organs and cavities are lined with epithelial cells. In a healthy body, the lungs and digestive organs are covered with a thin coating of fluid and mucus, meant to trap and expel any germs that enter the lungs. However, in children with CF, the diseased gene causes the body’s epithelial cells to create defective proteins called CFTR. Because of these defective proteins, the epithelial cells are unable to control the passage of chloride through the cell membranes. As a result, the mucus coating the lungs and digestive organs becomes thick and sticky, trapping germs instead of clearing them out. These trapped germs result in the repeated lung infections experienced by children with CF. This thick mucus also obstructs the pancreas, preventing the passage of vital digestive enzymes into the intestines. Without these enzymes, the body cannot break down and absorb the nutrients in food, causing children with CF to lose weight regardless of their diet.

Exploring the need for mutation-specific treatments in cystic fibrosis
Posted: 1 July 2016 | | No comments yet
Here, Caroline Richards, Editor of European Pharmaceutical Review, discusses cystic fibrosis and the treatment options that are currently available or in development…
Despite the fact that over 1,900 mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) are known to cause cystic fibrosis (CF), a debilitating inherited genetic disorder that progressively reduces organ function over time, only two disease modifying treatment options exist – Kalydeco (ivacaftor) and Orkambi (a combination of ivacaftor and lumacaftor), both developed by Vertex Pharmaceuticals.
All other treatments on the market address the symptoms of the disease. In addition, Vertex’s drugs are only effective in CF patients with particular mutation types. There is, therefore, a substantial need for new therapies which target more of the mutations involved in CF. Meanwhile, specific CF symptoms can be linked to certain mutations, with the severity and types of symptoms varying hugely according to the specific defects with the CFTR protein involved. For example, nonsense mutations give rise to particularly severe phenotypes; people who have these mutations are unable to produce any CFTR protein, which results in worse symptoms than those who produce partial amounts. Currently, relatively little is known about the natural history of nonsense mutation CF (nmCF).
Introduction to CF mutations
The CFTR gene, found on human chromosome 7, is a large gene that encodes a protein of 1,480 amino acids, which is responsible for transporting chloride ions through the plasma membrane of cells and thus regulating the flow of water in tissues. It is the impairment of this process, or absence of the protein entirely, which results in the classic symptoms seen in CF: extremely salty-tasting skin, persistent coughing, wheezing or shortness of breath, an excessive appetite but poor weight gain, and greasy, bulky stools. Symptoms result from the lack of water movement across membranes, causing a build-up of mucus in tissues. Much of the morbidity and mortality in CF is down to the occurrence of pulmonary exacerbations, which typically develop in CF patients from early age.
As an autosomal recessive disease, mutations must arise in both copies of the CFTR gene for CF to occur.