Challenges in the Management of Infantile Factor H Associated Hemolytic Uremic Syndrome

Overview

Journal Pediatr Nephrol

Specialties Nephrology
Pediatrics

Date 2004 Jun 19

PMID 15206027

Citations 15

Authors

Guido Filler

Seetha Radhakrishnan

Lisa Strain

Andrew Hill

Greg Knoll

Timothy H Goodship

Affiliations

Soon will be listed here.

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 m(2). 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.

Citing Articles

An test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

Gastoldi S, Aiello S, Galbusera M, Breno M, Alberti M, Bresin E Front Immunol. 2023; 14:1112257.

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The Genetics of Ultra-Rare Renal Disease.

Muff-Luett M, Nester C J Pediatr Genet. 2016; 5(1):33-42.

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Tandem hemodialysis and plasma exchange.

Filler G, Clark W, Huang S Pediatr Nephrol. 2013; 29(11):2077-82.

PMID: 24022368 DOI: 10.1007/s00467-013-2620-7.

Atypical hemolytic uremic syndrome.

Loirat C, Fremeaux-Bacchi V Orphanet J Rare Dis. 2011; 6:60.

PMID: 21902819 PMC: 3198674. DOI: 10.1186/1750-1172-6-60.

Plasma therapy for atypical haemolytic uraemic syndrome associated with heterozygous factor H mutations.

Kim J, Goodship T, Tizard J, Inward C Pediatr Nephrol. 2011; 26(11):2073-6.

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