Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis

J Nephrol. 2006 Jul-Aug;19(4):529-34.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited disorder characterized by the progressive enlargement of fluid-filled cysts in the kidneys and liver. Since the cystic fibrosis transmembrane conductance regulator (CFTR) Cl--channel may mediate the secretion of Cl--and fluid into the cysts, it is conceivable that coexisting cystic fibrosis (CF) in patients with ADPKD could attenuate their development. We previously reported that two patients with ADPKD coexisting with cystic fibrosis (CF) had a milder cystic phenotype than that of kindred without CFTR mutations. A subsequent report failed to confirm this protective effect. We now have identified another family with coexisting type 1 ADPKD and CF. The kidney volumes and the number and size of renal and hepatic cysts were markedly less in a member of this family with ADPKD (PKD1 mutation C508R) and CF (homozygous DeltaF508 mutation) than in her sister with ADPKD alone at comparable ages.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mutation
  • Polycystic Kidney, Autosomal Dominant / complications*
  • Polycystic Kidney, Autosomal Dominant / genetics

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator