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Cystic fibrosis 

Cystic fibrosis
Chapter:
Cystic fibrosis
Author(s):

Andrew Bush

, and Caroline Elston

DOI:
10.1093/med/9780198746690.003.0413
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date: 28 February 2021

Cystic fibrosis (CF) is a recessively inherited disease caused by mutations in the cystic fibrosis gene, located on the long arm of chromosome 7, which codes for a membrane protein—the cystic fibrosis transmembrane regulator protein—that is a chloride channel. More than 2,000 CF mutations have been identified, with the Δ‎F508 mutation being the most common of around 200 mutations that definitely cause disease (70% of CF chromosomes in the European population). Birth incidence varies with country of origin from 1 in 2,000 to 1 in 100,000. The most popular hypothesis is that mutant cystic fibrosis transmembrane regulator protein fails to transport chloride ions normally, and there is secondary impairment of sodium, bicarbonate, and water transport.

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