[CFTR and transepithelial ionic transport abnormalities in cystic fibrosis]

Arch Pediatr. 2003 Sep:10 Suppl 2:325s-332s. doi: 10.1016/s0929-693x(03)90047-9.
[Article in French]

Abstract

The genetic disease cystic fibrosis (CF) is caused by mutations of the CF gene and generates defective Cl- transport across the affected epithelium. Recent progress have been made to understand CFTR activity and regulation in epithelia and its role in the muco-ciliary clearance of airway. This revue-overviews the mechanisms of transepithelial ion transport, the role of CFTR in that process and the consequences for CF of CFTR mutations.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / physiopathology*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / physiology*
  • Humans
  • Ion Transport
  • Mucociliary Clearance / physiology*
  • Mutation

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator