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Successful Liver-Kidney Transplantation in Two Children With aHUS Caused by a Mutation in Complement Factor H

31 Oct 2007

Abstract excerpt

A 12-month-old boy and his 16-year-old aunt became acutely ill 6 months apart and were diagnosed to have atypical hemolytic uremic syndrome (aHUS). Genetic analysis revealed heterozygous R1215Q mutation in complement factor H (CFH) in both patients. The same mutation was found in five healthy adult relatives indicating incomplete penetrance of the disease. The patients developed terminal renal failure and...

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PMID: 17973958
DOI: 10.1111/j.1600-6143.2007.02029.x

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