title: Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation.
abstract: We report here a young female who underwent a successful deceased donor liver transplant for hepatic vein thrombosis. Five years after transplantation she developed postpartum atypical hemolytic uremic syndrome (aHUS). She did not recover renal function. Mutation screening of complement genes in her DNA did not show any abnormality. Mutation screening of DNA available from the donor showed a nonsense CFH mutation leading to factor H deficiency. Genotyping of the patient showed that she was homozygous for an aHUS CD46 at-risk haplotype. In this individual, the development of aHUS has been facilitated by the combination of a trigger (pregnancy), an acquired rare genetic variant (CFH mutation) and a common susceptibility factor (CD46 haplotype).
authors.affiliation: Renal Unit, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, United Kingdom.
authors.forename: J H
authors.initials: JH
authors.lastname: Brown
authors.forename: J
authors.initials: J
authors.lastname: Tellez
authors.forename: V
authors.initials: V
authors.lastname: Wilson
authors.forename: I J
authors.initials: IJ
authors.lastname: Mackie
authors.forename: M
authors.initials: M
authors.lastname: Scully
authors.forename: M M
authors.initials: MM
authors.lastname: Tredger
authors.forename: I
authors.initials: I
authors.lastname: Moore
authors.forename: N I
authors.initials: NI
authors.lastname: McDougall
authors.forename: L
authors.initials: L
authors.lastname: Strain
authors.forename: K J
authors.initials: KJ
authors.lastname: Marchbank
authors.forename: N S
authors.initials: NS
authors.lastname: Sheerin
authors.forename: J
authors.initials: J
authors.lastname: O'Grady
authors.forename: C L
authors.initials: CL
authors.lastname: Harris
authors.forename: T H J
authors.initials: TH
authors.lastname: Goodship
mesh_terms: D000328:Adult; D006502:Budd-Chiari Syndrome / Q000601:surgery; D017242:Complement Factor H / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D016031:Liver Transplantation; D049590:Postpartum Period
chemical_list: D017242:Complement Factor H