What is Cystic Fibrosis?
Cystic Fibrosis (CF) is the most common lethal genetic disease in the Caucasian population, affecting one in 3300 births. Other ethnic populations are affected less frequently, ranging from one in 10,000 – 15,000 births in Hispanic and African-American populations, to one in 30,000 Asian births. The CF gene is responsible for controlling salt and water transport across the cells lining the lung, pancreas, and other organs. When this gene is abnormal, secretions in these organs become dehydrated and sticky, and eventually clog airways and may block other organs (pancreas, intestines, male reproductive tract, bile ducts) as well. CF has a number of common symptoms, which may include: salty-tasting skin; persistent coughing, wheezing, or recurrent pneumonia; failure to gain weight despite a big appetite; and frequent, bulky stools. The standard test used to diagnose CF is the sweat test. This simple, painless test measures the amount of salt in sweat. Direct testing for abnormalities in the CF gene (from a blood test) is possible most of the time.
The treatment for CF is based upon the clearance of thick airway secretions, using chest percussion (e.g. clapping hands on the back and chest), inhaled treatments, and exercise. Antibiotics that fight the particular bacteria found in CF are used when the amount of infection in the chest becomes problematic, and may be administered by mouth, inhaled, or intravenously. The maintenance of proper nutrition is also essential, and requires a high calorie diet, supplementation of certain vitamins, and the use of enzymes that help to digest meals.
Although no cure for CF exists today, new treatments are being developed at UNC and other CF centers across the country. It is hoped that correction of the faulty gene, called “gene therapy”, will one day be able to cure CF. The first gene therapy treatment was given to a CF patient in 1993, and further improvements are underway.
At UNC, adult and pediatric CF patients are cared for in separate, multidisciplinary CF clinics by doctors who are leading the search for new treatments of this disease. These doctors are supported by physical therapists, nutritionists, respiratory therapists, nurses, social workers, and psychologists with special expertise in CF. If you are interested in learning more about the adult CF clinic, or wish to make an appointment, please call the clinic at: 984-974-5703. For inquiries into the pediatric CF clinic please visit the Department of Pediatrics website, or call 919-966-1055.
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