Successful isolated liver transplantation in a child with atypical hemolytic uremic syndrome and a mutation in complement factor H.
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.
Haller
W
W
Liver Unit, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK. wolfram.haller@rch.org.au
Milford
D V
DV
Goodship
T H J
TH
Sharif
K
K
Mirza
D F
DF
McKiernan
P J
PJ
D017250:Caliciviridae Infections / Q000209:etiology; D017242:Complement Factor H / Q000235:genetics*; D005759:Gastroenteritis / Q000821:virology; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery*; D004854:Herpesvirus 4, Human; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000503:physiopathology; D016031:Liver Transplantation / Q000009:adverse effects; D008297:Male; D009154:Mutation; D029322:Norovirus; D011183:Postoperative Complications; D018570:Risk Assessment; D055502:Secondary Prevention; D014766:Viremia / Q000209:etiology
D017242:Complement Factor H