Article
Challenges in the management of infantile factor H associated hemolytic uremic syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Aug 2004
Filler Guido, Radhakrishnan Seetha, Strain Lisa, Hill Andrew, Knoll Greg, Goodship Timothy H
Abstract excerpt
We describe a 1-year old with four episodes of recurrent hemolytic uremic syndrome (HUS). Family history suggested an autosomal dominant mode of inheritance. Factor H concentrations in the blood were normal in the affected family members. Mutation screening in the human complement factor H gene ( HF-1) revealed a novel mutation in exon 23 (c.3546_3581dup36). The HF-1 gene encodes complement factor H and the...
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