Cystic fibrosis: an overview

J Clin Gastroenterol. 2005 Apr;39(4):307-17. doi: 10.1097/01.mcg.0000155140.63510.cd.

Abstract

Cystic fibrosis (CF) is one of the most common inherited disorders of white populations. The isolation and cloning of the gene in CF that encodes the production of a transport protein that acts as an apical membrane chloride channel, termed cystic fibrosis transmembrane conductance regulator (CFTR), have improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has also revealed the disease's complexity. Gene replacement therapy is still far from being used in patients with CF, mostly because of difficulties in targeting the appropriate cells. Life expectancy of patients with this disorder has greatly improved over past decades because of better symptomatic treatment strategies. This article summarizes advances in understanding and treatment of CF.

Publication types

  • Review

MeSH terms

  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis* / epidemiology
  • Cystic Fibrosis* / genetics
  • Genotype
  • Global Health
  • Humans
  • Phenotype
  • Prevalence

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator