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Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation

Brown, J. H., Tellez, J., Wilson, V., Mackie, I. J., Scully, M., Tredger, M. M., Moore, I., McDougall, N. I., Strain, L., Marchbank, K. J., Sheerin, N. S., O'Grady, J., Harris, Claire Louise and Goodship, T. H. J. 2012. Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation. American Journal of Transplantation 12 (6) , pp. 1632-1636. 10.1111/j.1600-6143.2012.03991.x

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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).

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Systems Immunity Research Institute (SIURI)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
R Medicine > RD Surgery
Uncontrolled Keywords: complement, factor H, hemolytic uremic syndrome, genetics, liver transplantation
Publisher: Wiley-Blackwell
ISSN: 1600-6135
Last Modified: 04 Jun 2017 04:39
URI: https://orca.cardiff.ac.uk/id/eprint/42214

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