[Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool]

Ugeskr Laeger. 2014 Jan 27;176(5A):V08130496.
[Article in Danish]

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is associated with mutation in the PKD1- or PKD2-gene. We present two cases with an atypical presentation of ADPKD. Molecular genetic screening of PKD1 and PKD2 confirmed the diagnoses. Screening of PKD1 and PKD2 has become an important diagnostic tool.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Polycystic Kidney, Autosomal Dominant* / diagnosis
  • Polycystic Kidney, Autosomal Dominant* / genetics
  • TRPP Cation Channels / genetics

Substances

  • TRPP Cation Channels