Successful simultaneous liver-kidney transplant in an adult with atypical hemolytic uremic syndrome associated with a mutation in complement factor H

Am J Kidney Dis. 2011 Jul;58(1):109-12. doi: 10.1053/j.ajkd.2011.04.008. Epub 2011 May 20.

Abstract

Atypical hemolytic uremic syndrome was diagnosed in a 62-year-old man. Sequencing of the CFH gene, which encodes complement factor H, revealed a heterozygous adenine to guanine mutation at nucleotide 3550 of the complementary DNA, leading to a predicted substitution of alanine for threonine at amino acid position 1184 in the protein (c.3550A>G, p.Thr1184Ala). Three years later, he received a simultaneous liver-kidney transplant with plasmapheresis and intratransplant plasma infusion. The postoperative course was complicated by an anastomotic biliary stricture that was treated successfully using endoscopic stenting. One year later, he has excellent function of both transplants, emphasizing that simultaneous liver-kidney transplant is a valuable treatment option in the management of adult patients with atypical hemolytic uremic syndrome.

Publication types

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

MeSH terms

  • Atypical Hemolytic Uremic Syndrome
  • Complement Factor H / genetics*
  • Hemolytic-Uremic Syndrome / genetics
  • Hemolytic-Uremic Syndrome / surgery
  • Humans
  • Kidney Transplantation*
  • Liver Transplantation*
  • Male
  • Middle Aged
  • Mutation
  • Treatment Outcome

Substances

  • Complement Factor H