Cystic Fibrosis and Cftr Gene

The early description of cystic fibrosis (CF) dates back to late 30s. In 1936, Fanconi identified the association between the “congenital CF of the pancreas and broncheactasis" shortly followed by Andersen who in 1938 gave the complete anatomopathologic description of CF. In 1953, Di Sant'Agnese described an excess of sodium chloride in the sweat of children affected by CF. This discovery shortly leads to the use of sweat chloride test, the only reliable diagnostic test of the disease available to this date. In early eighties, the abnormality of transport of salts was precisely described by Quinton (Quinton 1983) who explained the defect of permeability of chloride ions (Cl-) in the affected epithelial cells of sweat glands, and later by Knowles (Knowles 1983) who observed the same phenomenon in the respiratory epithelium. In 1989, the CFTR gene, implicated in the CF, was isolated. This gene is localized on 7q31 and contains 27 exons. The protein is composed of 1480 amino acids. IBackground