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Cystic FibrosisCystic Fibrosis is one of the most common serious genetic diseases; its highest incidence is among Caucasians (affecting 1 in 3,000). It is a mutation in the gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) which is responsible for cystic fibrosis (500 different mutations have so far been discovered to lead to the disease). As a result, the body produces a non-functional protein, which disrupts the normal flow of salt and water from the cells of the exocrine glands - the organs affected are the lungs, the pancreas, and the reproductive system. The complications of cystic fibrosis stem from the large amounts of very sticky mucus that are produced in these areas. The name refers to the cysts (fluid filled sacs) and scar tissue (fibrosis) typically occurring in the pancreas; this is caused by the channels through which digestive enzymes are meant to pass becoming clogged with mucus.. The pancreas is also responsible for insulin production; 15% of adults with cystic fibrosis eventually develop diabetes, though it tends to be relatively mild. An individual born with the cystic fibrosis gene will usually be diagnosed in the first year, although occasionally symptoms do not become evident until adolescence, or even later. The symptoms may include:
Late onset
of puberty, inflammation of the pancreas, cirrhosis (a liver condition), and infertility may also be associated with cystic fibrosis.
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