Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H

Am J Transplant. 2008 Jan;8(1):216-21. doi: 10.1111/j.1600-6143.2007.02029.x. Epub 2007 Oct 31.

Abstract

A 12-month-old boy and his 16-year-old aunt became acutely ill 6 months apart and were diagnosed to have atypical hemolytic uremic syndrome (aHUS). Genetic analysis revealed heterozygous R1215Q mutation in complement factor H (CFH) in both patients. The same mutation was found in five healthy adult relatives indicating incomplete penetrance of the disease. The patients developed terminal renal failure and experienced reversible neurological symptoms in spite of plasma exchange (PE) therapy. In both cases, liver-kidney transplantation was successfully performed 6 months after the onset of the disease. To minimize complement activation and prevent thrombotic microangiopathy or overt thrombotic events due to the malfunctioning CFH, extensive PE with fresh frozen plasma was performed pre- and perioperatively and anticoagulation was started a few hours after the operation. No circulatory complications appeared and all four grafts started to function immediately. Also, no recurrence or other major clinical setbacks have appeared during the postoperative follow-up (15 and 9 months) and the grafts show excellent function. While more experience is needed, it seems that liver-kidney transplantation combined with pre- and perioperative PE is a rational option in the management of patients with aHUS caused by CFH mutation.

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Substitution / genetics*
  • Complement Factor H / genetics*
  • Female
  • Genetic Carrier Screening
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / surgery*
  • Hemolytic-Uremic Syndrome / therapy
  • Humans
  • Infant
  • Kidney Transplantation*
  • Liver Transplantation*
  • Male
  • Pedigree
  • Plasma Exchange

Substances

  • Complement Factor H