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Postpartum aHUS Secondary to a Genetic Abnormality in Factor H Acquired Through Liver Transplantation

Lookup NU author(s): Dr Valerie Wilson, Dr Iain Moore, Dr Lisa Turnbull, Professor Kevin MarchbankORCiD, Professor Neil SheerinORCiD, Professor Claire Harris, Professor Tim Goodship

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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).

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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

Year: 2012

Volume: 12

Issue: 6

Pages: 1632-1636

Print publication date: 15/03/2012

ISSN (print): 1600-6135

ISSN (electronic): 1600-6143

Publisher: Wiley-Blackwell Publishing, Inc.

URL: http://dx.doi.org/10.1111/j.1600-6143.2012.03991.x

DOI: 10.1111/j.1600-6143.2012.03991.x

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