title: Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation.
abstract: A male child initially presented with atypical hemolytic uremic syndrome (HUS) at the age of 4 months and progressed within weeks to end stage renal disease (ESRD). At the age of 2 years he received a live-related kidney transplant from his mother, which, despite initial good function, was lost to recurrent disease after 2 weeks. Complement factor H analysis showed low serum levels and the presence of two mutations on different alleles (c.2918G > A, Cys973Tyr and c.3590T > C, Val1197Ala). His survival on dialysis was at risk because of access failure and recurrent bacteremic episodes. Therefore, at the age of 5 years he received a combined liver-kidney transplant with pre-operative plasma exchange. Initial function of both grafts was excellent and this has been maintained for over 2 years. This report suggests that despite setbacks in previous experience, combined liver-kidney transplantation offers the prospect of a favorable long-term outcome for patients with HUS associated with complement factor H mutations.
authors.affiliation: Department of Pediatrics, The Mount Sinai Medical Center, New York, USA. jeff.saland@mssm.edu
authors.forename: J M
authors.initials: JM
authors.lastname: Saland
authors.forename: S H
authors.initials: SH
authors.lastname: Emre
authors.forename: B L
authors.initials: BL
authors.lastname: Shneider
authors.forename: C
authors.initials: C
authors.lastname: Benchimol
authors.forename: S
authors.initials: S
authors.lastname: Ames
authors.forename: J S
authors.initials: JS
authors.lastname: Bromberg
authors.forename: G
authors.initials: G
authors.lastname: Remuzzi
authors.forename: L
authors.initials: L
authors.lastname: Strain
authors.forename: T H J
authors.initials: TH
authors.lastname: Goodship
mesh_terms: D002675:Child, Preschool; D017242:Complement Factor H / Q000235:genetics*; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007223:Infant; D016030:Kidney Transplantation; D016031:Liver Transplantation; D008297:Male; D009154:Mutation / Q000235:genetics; D012008:Recurrence; D012307:Risk Factors; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D017242:Complement Factor H