Affordable Access

[Cystic fibrosis].

Authors
  • Høiby, N
  • Koch, C
  • Frederiksen, B
Type
Published Article
Journal
Nordisk medicin
Publication Date
Dec 01, 1998
Volume
113
Issue
10
Pages
328–330
Identifiers
PMID: 9894407
Source
Medline
License
Unknown

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.

Report this publication

Statistics

Seen <100 times