Cystic fibrosis, also known as mucoviscidosis, is an autosomal recessive genetic disorder that affects mostly the lungs but also the pancreas, liver, and intestine. Difficulty breathing is the most serious symptom and results from frequent lung infections. Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by one of many different mutations in the gene for the protein cystic fibrosis transmembrane conductance regulator. This protein is required to regulate the components of sweat, digestive fluids, and mucus. Healthy people have two working copies of the CFTR gene. Carriers have one working copy. People with CF have no working copy. CF therefore has autosomal recessive inheritance. The underlying mechanism is abnormal transport of chloride and sodium across the epithelium, which is the cell layer that covers membranes over organs. This leads to thick, viscous secretions. Individuals with cystic fibrosis can be diagnosed before birth by genetic testing or by a sweat test in early childhood. Lung infections are treated with antibiotics and other medications.
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