Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection

BMC Med Genet. 2018 Jan 30;19(1):19. doi: 10.1186/s12881-018-0536-6.

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and related literature is currently limited.

Case presentation: In this report, we described a patient with asymptomatic Stanford B aortic dissection. Further investigation revealed a positive family history of ADPKD and normal renal function. Whole exome sequencing identified a stop-gain mutation c.1774C > T, p.Arg592Ter in the PKD2 gene that segregated in the family. To our knowledge, this is the first report of ADPKD complicated with aortic dissection caused by PKD2 mutation.

Conclusions: The case illustrates the importance of aorta imaging and molecular diagnosis in ADPKD patients in order to achieve early recognition of the deadly vascular complication.

Keywords: Aortic dissection; Autosomal dominant polycystic kidney disease; PKD2 mutation; Whole exome sequencing.

Publication types

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

MeSH terms

  • Adult
  • Aortic Dissection / diagnostic imaging*
  • Aortic Dissection / genetics*
  • Exome Sequencing*
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging*
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • TRPP Cation Channels / genetics*

Substances

  • TRPP Cation Channels
  • polycystic kidney disease 2 protein