Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation

Am J Transplant. 2008 Aug;8(8):1694-701. doi: 10.1111/j.1600-6143.2008.02297.x. Epub 2008 Jun 28.

Abstract

Mutations in one or more genes encoding complement-regulatory proteins predispose to atypical hemolytic uremic syndrome (aHUS) and its recurrence following kidney transplantation. We evaluated plasma complement level and performed a screening for mutations in genes encoding complement Factors H and I (CFH, CFI) and membrane cofactor protein (MCP) in 24 kidney transplant recipients experiencing de novo thrombotic microangiopathy (TMA). Six patients presented with low C3 and/or low Factor B levels suggestive complement alternative pathway. A mutation in the CFH or CFI gene was found in 7/24 patients (29%), two of whom had a mutation in both genes. On the contrary, no mutation was identified in a control kidney transplant patients group (n = 25) without TMA. Patients with or without mutations were similar with regard to clinical features. Eight out of 24 patients lost their graft within 1 year of posttransplantation including six patients with a CFH mutation or a decrease of C3 or CFB in plasma. To conclude, kidney transplant patients with de novo TMA exhibit an unexpectedly high frequency of CFH and CFI mutations. These results suggest that genetic abnormalities may represent risk factors for de novo TMA after kidney transplantation and raise the question of the best therapeutic strategy.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Complement Factor H / genetics
  • Complement Factor I / genetics*
  • Female
  • Humans
  • Kidney / blood supply*
  • Kidney Transplantation / adverse effects*
  • Male
  • Membrane Cofactor Protein / genetics*
  • Microcirculation
  • Middle Aged
  • Mutation
  • Retrospective Studies
  • Risk Factors
  • Thrombosis

Substances

  • CD46 protein, human
  • CFH protein, human
  • Membrane Cofactor Protein
  • Complement Factor H
  • CFI protein, human
  • Complement Factor I