학술논문
Successful Isolated Liver Transplantation in a Child with Atypical Hemolytic Uremic Syndrome and a Mutation in Complement Factor H
Document Type
Academic Journal
Source
American Journal of Transplantation. Sep 01, 2010 10(9):2142-2147
Subject
Language
English
ISSN
1600-6135
Abstract
A male infant was diagnosed with atypical hemolytic uremic syndrome (aHUS) at the age of 5.5 months. Sequencing of the gene (CFH) encoding complement factor H revealed a heterozygous mutation (c.3644G>A, p.Arg1215Gln). Despite maintenance plasmapheresis he developed recurrent episodes of aHUS and vascular access complications while maintaining stable renal function. At the age of 5 years he received an isolated split liver graft following a previously established protocol using pretransplant plasma exchange (PE) and intratransplant plasma infusion. Graft function, renal function and disease remission are preserved 2 years after transplantation. Preemptive liver transplantation prior to the development of end stage renal disease is a valuable option in the management of aHUS associated with CFH mutations.