Sudden death of a young male with previously undiagnosed autosomal dominant polycystic kidney disease (ADPKD)

Leg Med (Tokyo). 2011 Jan;13(1):35-8. doi: 10.1016/j.legalmed.2010.09.003.


Autosomal dominant polycystic kidney disease (ADPKD) is one of the best known genetic diseases. However, in only very rare cases does it present as an abnormal death followed by clarification of its genetic background. We experienced a case in which ADPKD first became evident from the results of forensic autopsy, on the basis of which all potentially affected family members were offered genetic and other medical examinations. In this way, forensic medicine was able not only to determine the cause of death but to contribute to preventive medicine as well.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Autopsy
  • Death, Sudden / etiology*
  • Diagnostic Errors*
  • Forensic Genetics
  • Genetic Carrier Screening
  • Genetic Linkage
  • Humans
  • Intracranial Aneurysm / mortality
  • Japan
  • Male
  • Polycystic Kidney, Autosomal Dominant / diagnosis*
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polycystic Kidney, Autosomal Dominant / pathology
  • Sequence Analysis, DNA