Cystic fibrosis from the gastroenterologist's perspective

Nat Rev Gastroenterol Hepatol. 2016 Mar;13(3):175-85. doi: 10.1038/nrgastro.2015.226. Epub 2016 Jan 21.

Abstract

Cystic fibrosis is a life-limiting, recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Increased survival outcomes and the multisystem nature of the disease, including the involvement of hepatobiliary and gastrointestinal tracts, now require the need for more extensive knowledge and expertise in cystic fibrosis among gastroenterologists. Manifestations are either a direct consequence of the primary defect in cystic fibrosis or a secondary complication of the disease or therapy. Adult patients with cystic fibrosis also have an increased risk of malignancy in the gastrointestinal and pancreatico-biliary tracts compared with the general population. Novel treatments that target the basic defects in the CFTR protein have emerged, but to date not much is known about their effects on the gastrointestinal and hepatobiliary systems. The introduction of such therapies has provided new opportunities for the application of intestinal endpoints in clinical trials and the understanding of underlying disease mechanisms that affect the gut in cystic fibrosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis / therapy
  • Cystic Fibrosis Transmembrane Conductance Regulator / physiology
  • Gastrointestinal Diseases / etiology*
  • Gastrointestinal Diseases / pathology
  • Gastrointestinal Diseases / therapy
  • Humans

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator