Living donor kidney transplantation in patients with hereditary nephropathies

Nat Rev Nephrol. 2010 Dec;6(12):736-43. doi: 10.1038/nrneph.2010.122. Epub 2010 Sep 28.


Patients with some hereditary nephropathies-including autosomal dominant polycystic kidney disease (ADPKD), Fabry disease and Alport syndrome-can progress to end-stage renal disease (ESRD) and are candidates for kidney transplantation. When considering whether a potential living donor is appropriate for a particular patient, clinicians should be aware of the increased risk of adverse outcomes for the donor and the recipient. Renal transplantation from a living related donor is not contraindicated in most nephropathies that have an autosomal recessive mode of inheritance (for example, autosomal recessive polycystic kidney disease and cystinosis). Renal transplant recipients with ADPKD, however, should only receive a kidney from a related donor if the disease has been excluded in the donor by imaging and/or genetic testing. Potential living related donors for patients with Alport syndrome should be evaluated carefully for the presence of microhematuria and microalbuminuria before a decision is made to perform transplantation, and mothers or heterozygous sisters of affected male recipients with X-linked Alport syndrome should be informed about the possible long-term increased risk of renal dysfunction associated with donation. Most patients with atypical hemolytic uremic syndrome should not receive a kidney transplant from a living donor because there is a high risk of disease recurrence and graft loss.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / surgery
  • Arteriosclerosis / genetics
  • Arteriosclerosis / surgery
  • Cystinosis / genetics
  • Cystinosis / surgery
  • Eye Abnormalities / genetics
  • Eye Abnormalities / surgery
  • Fabry Disease / genetics
  • Fabry Disease / surgery
  • Hemolytic-Uremic Syndrome / genetics
  • Hemolytic-Uremic Syndrome / surgery
  • Humans
  • Hyperoxaluria / genetics
  • Hyperoxaluria / surgery
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / surgery
  • Kidney Diseases / genetics*
  • Kidney Diseases / surgery*
  • Kidney Diseases, Cystic / congenital
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / surgery
  • Kidney Transplantation*
  • Living Donors*
  • Myasthenic Syndromes, Congenital
  • Nephritis, Hereditary / genetics
  • Nephritis, Hereditary / surgery
  • Nephrotic Syndrome / genetics
  • Nephrotic Syndrome / surgery
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / surgery
  • Patient Selection
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polycystic Kidney, Autosomal Dominant / surgery
  • Primary Immunodeficiency Diseases
  • Pulmonary Embolism / genetics
  • Pulmonary Embolism / surgery
  • Pupil Disorders / genetics
  • Pupil Disorders / surgery
  • Risk Factors

Supplementary concepts

  • Nephronophthisis, familial juvenile
  • Pierson syndrome
  • Schimke immunoosseous dysplasia