Simultaneous multicystic kidney and Anderson-Fabry disease: 2 separate entities or same side of the coin

J Nephrol. 2011 Nov-Dec;24(6):806-8. doi: 10.5301/jn.5000031.

Abstract

We present the case of a 54-year-old man with multicystic kidney and concomitant Anderson-Fabry disease. He was referred to our hospital with multiple renal and hepatic cysts, without apparent family history of autosomal dominant polycystic kidney disease. His clinical history suggested Anderson-Fabry disease, so an extensive work-up for Anderson-Fabry disease was subsequently undertaken. The alpha-galactosidase activity in his serum was low, and a final diagnosis of Anderson-Fabry disease with concomitant multicystic kidney was confirmed by genetic analysis.

Publication types

  • Case Reports

MeSH terms

  • Comorbidity
  • Fabry Disease / diagnosis*
  • Fabry Disease / epidemiology*
  • Fabry Disease / genetics
  • Humans
  • Kidney / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Multicystic Dysplastic Kidney / diagnosis*
  • Multicystic Dysplastic Kidney / epidemiology*
  • Multicystic Dysplastic Kidney / genetics
  • Mutation / genetics
  • Myocardium / pathology
  • alpha-Galactosidase / blood
  • alpha-Galactosidase / genetics

Substances

  • alpha-Galactosidase