Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disorder that causes serious damage to the lungs, digestive system, and other organs of the body. Cystic fibrosis affects cells that produce mucus, sweat, and digestive juices. These secreted fluids are usually thin and slippery. But in people with CF, the defective gene makes secretions sticky and thick. Instead of acting as a lubricant, secretions clog up tubes, ducts, and passages, especially in the lungs and pancreas.

CF is inherited in an autosomal recessive manner. This is caused by the presence of mutations in both copies of the CF transmembrane conductance regulator (CFTR) gene. Those with a single working copy are carriers and are otherwise mostly healthy. CFTR is involved within the assembly of sweat, digestive fluids, and mucus. When the CFTR is down, secrets that are usually thin become thick instead. The condition is diagnosed with a sweat test and genetic testing. Newborn screening at birth is performed in some regions of the world.

 

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