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- W4300899860 abstract "Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Causcasian populations, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which encodes a protein that functions as a chloride channel in the apical membrane of epithelial cells. The clinical manifestations comprise recurrent and chronic bronchopulmonary infections, pancreatic insufficiency, and hidrotic salt depletion. Such complications as diabetes, cirrhosis, and respiratory insufficiency develop, resulting in death in the absence of lung transplantation. Treatment is aggressive and comprehensive from the time of diagnosis. Early and intensive treatment of bacterial colonisation and lung infection is correlated with improved prognosis, and monthly follow-up at a CF Centre is mandatory. Mean survival among CF patients at the Danish CF Centre i Copenhagen is more than 40 years. Clinical trials of gene therapy are under way, but results to date have been disappointing." @default.
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- W4300899860 date "1998-12-01" @default.
- W4300899860 modified "2023-09-29" @default.
- W4300899860 title "[Cystic fibrosis]." @default.
- W4300899860 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9894407" @default.
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