Challenges in the management of infantile factor H associated hemolytic uremic syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2004-06-16

AUTHORS

Guido Filler, Seetha Radhakrishnan, Lisa Strain, Andrew Hill, Greg Knoll, Timothy H. Goodship

ABSTRACT

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. More... »

PAGES

908-911

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-004-1526-9

DOI

http://dx.doi.org/10.1007/s00467-004-1526-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011641665

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15206027


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