Lookup NU author(s): Dr Valerie Wilson,
Dr Iain Moore,
Dr Lisa Turnbull,
Dr Kevin Marchbank,
Professor Neil Sheerin,
Professor Claire Harris,
Professor Tim Goodship
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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).
Author(s): Brown JH, Tellez J, Wilson V, Mackie IJ, Scully M, Tredger MM, Moore I, McDougall NI, Strain L, Marchbank KJ, Sheerin NS, O'Grady J, Harris CL, Goodship THJ
Publication type: Article
Publication status: Published
Journal: American Journal of Transplantation
Print publication date: 15/03/2012
ISSN (print): 1600-6135
ISSN (electronic): 1600-6143
Publisher: Wiley-Blackwell Publishing, Inc.
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