Cystic fibrosis
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Cystic fibrosis is a common heridiary disease that affects the whole body, causing gradually worsening disability and early death.
Breathing difficulties are the most common symptom and are a result of frequent lung infections. These are treated, though not always cured, by antibiotics and other medications. CF is a multi-system disorder of exocrine glands causing a thick mucus substance to form. This affects the lungs, intestines, pancreas, and liver. The standard test for diagnosis is a sweat test which evaluates the level of chloride excreted by the body. A large amount of symptoms, including sinus infections, poor growth, 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 common among Caucasians and Ashkenazi Jews; one in 25 people of European descent carries one gene for CF, making it the most common genetic disease among them. People with cystic fibrosis can be diagnosed before birth by genetic testing or in early childhood by a sweat test. There is no cure for CF, and the current median age of survival for patients living in the U.S. is 36.8 years. Ultimately, lung transplantation is often necessary as CF worsens.
CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). This gene helps create sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. The name cystic fibrosis refers to the scarring (fibrosis) and cyst formation in the pancreas, which first recognized in the 1930s.
