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Challenges in the management if infantile factor H associated hemolytic uremic syndrome

Lookup NU author(s): Dr Lisa Turnbull, Professor Tim Goodship


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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 mutation leads to the insertion of 12 additional amino acids after codon 1176 in factor H. The recurrent HUS responded to plasma infusions and renal function improved from a glomerular filtration rate of 21 to 50 ml/min per 1.73 m2. The infusions of fresh-frozen plasma were necessary at once-weekly intervals at a dose of 40-45 ml/kg in order to maintain remission and resulted in significant hyperproteinemia. This was addressed by intermittent plasma exchange through an arterio-venous fistula. The prognosis and therapeutic dilemmas are discussed. © IPNA 2004.

Publication metadata

Author(s): Filler G, Radhakrishnan S, Strain L, Hill A, Knoll G, Goodship TH

Publication type: Article

Publication status: Published

Journal: Pediatric Nephrology

Year: 2004

Volume: 19

Issue: 8

Pages: 908-911

ISSN (print): 0931-041X

ISSN (electronic): 1432-198X

Publisher: Springer


DOI: 10.1007/s00467-004-1526-9


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