Cystic fibrosis is a disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. It is a life-threatening disorder.

See also:

Cystic fibrosis - nutritional considerations

Neonatal cystic fibrosis screening

Causes, incidence, and risk factors

Cystic fibrosis (CF) is caused by a defective gene which causes the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas, the organ that helps to break down and absorb food.

This collection of sticky mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man's reproductive system.

Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent. An estimated 1 in 29 Caucasian Americans have the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It's more common among those of Northern or Central European descent.

Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. These patients usually have a milder form of the disease.


Symptoms in newborns may include:

Delayed growth

Failure to gain weight normally during childhood

No bowel movements in first 24 to 48 hours of life

Salty-tasting skin

Symptoms related to bowel function may include:

Belly pain from severe constipation

Increased gas, bloating, or a belly that appears swollen (distended)

Nausea and loss of appetite

Stools that are pale or clay colored, foul smelling, have mucus, or that float

Weight loss

Symptoms related to the lungs and sinuses may include:

Coughing or increased mucus in the sinuses or lungs


Nasal congestion caused by nasal polyps

Recurrent episodes of pneumonia. Symptoms in someone with cystic fibrosis include:


Increased coughing

Increased shortness of breath

Loss of appetite

More sputum

Sinus pain or pressure caused by infection or polyps

Symptoms that may be noticed later in life:

Infertility (in men)

Repeated inflammation of the pancreas (pancreatitis)

Respiratory symptoms

Signs and tests

A blood test is available to help detect CF. The test looks for variations in a gene known to cause the disease. Other tests use to diagnose CF include:

Immunoreactive trypsinogen (IRT) test is a standard newborn screening test for CF. A high level of IRT suggests possible CF and requires further testing.

Sweat chloride test is the standard diagnostic test for CF. A high salt level in the patient's sweat is a sign of the disease.

Other tests that identify problems that can be related to cystic fibrosis include:

Chest x-ray or CT scan

Fecal fat test

Lung function tests

Measurement of pancreatic function

Secretin stimulation test

Trypsin and chymotrypsin in stool

Upper GI and small bowel series


An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life. Follow-up and monitoring are very important. If possible, patients should be cared for at cystic fibrosis specialty clinics, which can be found in many communities. When children reach adulthood, they should transfer to a cystic fibrosis specialty center for adults.

Treatment for lung problems includes:

Antibiotics to prevent and treat lung and sinus infections. They may be taken by mouth, or given in the veins or by breathing treatments. People with cystic fibrosis may take antibiotics only when needed, or all the time. Doses are usually higher than normal.

Inhaled medicines to help open the airways

DNAse enzyme therapy to thin mucus and make it easier to cough up

High concentration of salt solutions (hypertonic saline)

Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly (ask your health care provider)

Lung transplant is an option in some cases

Oxygen therapy may be needed as lung disease gets worse

Lung problems are also treated with aerobic exercise or other therapies to thin the mucous and make it easier to cough up out of the lungs. These include a Percussion Vest, manual chest percussion, A-capella, or TheraPEP device.

Treatment for bowel and nutritional problems (see: Cystic fibrosis - nutritional considerations) may include:

A special diet high in protein and calories for older children and adults (see: Cystic fibrosis nutritional considerations)

Pancreatic enzymes to help absorb fats and protein

Vitamin supplements, especially vitamins A, D, E, and K

Your doctor can suggest other treatments if you have very hard stools

Care and monitoring at home should include:

Avoiding smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew

Clearing or bringing up mucus or secretions from the airways. This must be done one to fours times each day. Patients, families, and caregivers must learn about doing chest percussion and postural drainage to help keep the airways clear

Drinking plenty of fluids. This is particularly true for infants, children, in hot weather, when there is diarrhea or loose stools, or during extra physical activity

Exercising two or three times each week. Swimming, jogging, and cycling are good options.

Support Groups

For additional information and resources, see: Cystic fibrosis support group

Expectations (prognosis)

Most children with cystic fibrosis are fairly healthy until they reach adulthood. They are able to participate in most activities and should be able to attend school. Many young adults with cystic fibrosis finish college or find employment.

Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is approximately 37 years, a dramatic increase over the last three decades.

Death is usually caused by lung complications.


The most common complication is chronic respiratory infection.

Bowel problems, such as gallstones, intestinal obstruction, and rectal prolapse

Coughing up blood

Chronic respiratory failure



Liver disease or liver failure, pancreatitis, biliary cirrhosis


Nasal polyps and sinusitis

Osteoporosis and arthritis

Pneumonia, recurrent


Right-sided heart failure (cor pulmonale)

Calling your health care provider

Call your health care provider if an infant or child has symptoms of cystic fibrosis.

Call your health care provider if a person with cystic fibrosis develops new symptoms or if symptoms get worse, particularly severe breathing difficulty or coughing up blood.

Call your health care provider if you or your child experiences:

Fever, increased coughing, changes in sputum or blood in sputum, loss of appetite, or other signs of pneumonia

Increased weight loss

More frequent bowel movements or stools that are foul-smelling or have more mucus

Swollen belly or increased bloating


There is no way to prevent cystic fibrosis. Screening those with a family history of the disease may detect the cystic fibrosis gene in 60 - 90% of carriers, depending on the test used.