What is cystic fibrosis?

Cystic fibrosis is a life-threatening genetic disease that causes thick, sticky mucus to build up in the body, most frequently in the lungs and pancreas. It may also affect sweat glands and the reproductive system in men. It is one of the most common chronic lung diseases in children and young adults, and it is also the most common deadly genetic disease among whites in the United States, particularly among those of northern or central European descent.

People may carry a defective cystic fibrosis (CF) gene from one parent and not acquire the disease. A defective gene from both parents is required for development of CF. Diagnosis occurs by age 2 years in children with more severe disease and by 18 years of age or older in those with milder disease.

Symptoms in infants may include delayed growth, failure to gain weight normally during childhood, no bowel movements in the first 24 to 48 hours of life and salty-tasting skin. Gastrointestinal symptoms my include pain from constipation; increased gas, bloating or distended belly; nausea or loss of appetite; clay-colored, foul-smelling, mucusy or floating stools; or weight loss. Lung- or sinus-related symptoms include coughing or increased mucus in the sinuses or lungs; fatigue, nasal congestion caused by nasal polyps; or recurrent pneumonia. Other general symptoms of CF are fever, coughing, shortness of breath, loss of appetite or more sputum. Older patients may develop infertility (in men), pancreatitis or respiratory symptoms.

Apart from a standard blood test, CF may be diagnosed by an immunoreactive trypsinogen test or a sweat chloride test. CF may also be diagnosed by X-ray or computed tomography scan, fecal fat test, lung function or pancreatic function tests, secretin stimulation test or an upper gastrointestinal and small bowel series.

Treatment for lung and sinus infections include antibiotics, inhaled medications, enzyme therapy, hypertonic saline, yearly influenza or pneumococcal vaccination or, in severe cases, oxygen therapy or lung transplant. Exercise and other therapies to thin the mucus may also be effective.

Treatment of gastrointestinal symptoms may include a high-protein, high-calorie diet, pancreatic enzymes, vitamin A, D, E and K supplements, and treatment for hard stools.

There is no way to prevent CF.

Additional information about cystic fibrosis may be found at these websites:

http://ghr.nlm.nih.gov/condition/cystic-fibrosis

http://kidshealth.org/parent/medical/lungs/cf.html

http://www.cff.org/

http://www.nhlbi.nih.gov/health/health-topics/topics/cf/

http://www.cysticfibrosis.com/

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/