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Cystic fibrosis (CF) is a genetic disease affecting approximately 30,000 children and adults in the United States. A defective
gene causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung
infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to
help break down and absorb food. The mucus also can block the bile duct in the liver, eventually causing permanent liver damage
in approximately six percent of people with CF.
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More than 10 million Americans are unknowing, symptomless carriers of the defective CF gene. An individual must inherit
two defective CF genes—one from each parent—to have CF. Each time two carriers conceive, there is a 25 percent
chance that their child will have CF; a 50 percent chance that the child will be a carrier of the CF gene; and a 25 percent
chance that the child will be a non-carrier.
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CF occurs in approximately one of every 3,500 live births. About 1,000 new cases of CF are diagnosed each year. More
than 80 percent of patients are diagnosed by age three; however, nearly 10 percent of newly diagnosed cases are age 18 or
older.
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People with CF have a variety of symptoms including: very salty-tasting skin; persistent coughing, at times with phlegm;
wheezing or shortness of breath; an excessive appetite but poor weight gain; and greasy, bulky stools. Symptoms vary from
person to person due, in part, to the more than 1,000 mutations of the CF gene.
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The sweat test is the standard diagnostic test for CF. A sweat test should be performed at a CF Foundation-accredited care center where
strict guidelines are followed to ensure accurate results. This simple and painless procedure measures the amount of salt
in the sweat. A high salt level indicates CF.
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The treatment of CF depends upon the stage of the disease and the organs involved. Clearing mucus from the lungs is an
important part of the daily CF treatment regimen. Chest physical therapy is a form of airway clearance done by vigorous clapping
on the back and chest to dislodge the thick mucus from the lungs. Other types of treatments include TOBIŽ (tobramycin solution
for inhalation), an aerosolized antibiotic used to treat lung infections; PulmozymeŽ, a mucus-thinning drug shown to reduce
the number of lung infections and improve lung function; and azithromycin, an antibiotic recently proven to be effective in
people with CF whose lungs are chronically infected with the common Pseudomonas aeruginosa bacteria. In addition, approximately
90 percent of all people with CF take pancreatic enzyme supplements to help them absorb food in digestion.
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According to the CF Foundation's National Patient Registry, the median age of survival for a person with CF is in the mid-30s. As more advances have been made in the treatment of CF,
the number of adults with CF has steadily grown. Today, nearly 40 percent of the CF population is age 18 and older. Adults,
however, may experience additional health challenges including CF-related diabetes and osteoporosis. CF also can cause reproductive
problems—more than 95 percent of men with CF are sterile. But, with new technologies, some are becoming fathers. Although
many women with CF are able to conceive, limited lung function and other health factors may make it difficult to carry a child
to term. |
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