Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation

Am J Transplant. 2008 Jan;8(1):232-7. doi: 10.1111/j.1600-6143.2007.02030.x. Epub 2007 Oct 31.


Patients with end-stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney disease (ADPKD) receive fewer living-related kidney (LRK) transplants than other groups with ESRD. This relates to the difficulties in excluding the disease in potential donors. We report a case which highlights these difficulties and, by discovery of mosaicism for a new mutation, illustrates the role of clinical and molecular genetic resources in assessing young related kidney donors for patients with ADPKD.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Genetic Testing*
  • Haplotypes
  • Humans
  • Kidney Transplantation*
  • Living Donors*
  • Male
  • Mosaicism*
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Polycystic Kidney, Autosomal Dominant / surgery*