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. 1998 Apr;53(4):836-44.
doi: 10.1111/j.1523-1755.1998.00824.x.

Genetic studies into inherited and sporadic hemolytic uremic syndrome

P Warwicker  1 , T H Goodship, R L Donne, Y Pirson, A Nicholls, R M Ward, P Turnpenny, J A Goodship
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Free article

Genetic studies into inherited and sporadic hemolytic uremic syndrome

P Warwicker et al. Kidney Int. 1998 Apr.
Free article

Abstract

Hemolytic uremic syndrome (HUS) in adults carries a high morbidity and mortality, and its cause remains unknown despite many theories. Although familial HUS is rare, it affords a unique opportunity to elucidate underlying mechanisms that may have relevance to acquired HUS. We have undertaken a genetic linkage study based on a candidate gene approach. A common area bounded by the markers D1S212 and D1S306, a distance of 26 cM located at 1q32 segregated with the disease (Z max 3.94). We demonstrate that the gene for factor H lies within the region. Subsequent mutation analysis of the factor H gene has revealed two mutations in patients with HUS. In an individual with the sporadic/relapsing form of the disease we have found a mutation comprising a deletion, subsequent frame shift and premature stop codon leading to half normal levels of serum factor H. In one of the three families there is a point mutation in exon 20 causing an arginine to glycine change, which is likely to alter structure and hence function of the factor H protein. Factor H is a major plasma protein that plays a critical regulatory role in the alternative pathway of complement activation. In light of these findings and previous reports of HUS in patients with factor H deficiency, we postulate that abnormalities of factor H may be involved in the etiology of HUS.

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Comment in

  • Are HUS and TTP genetically determined?
    Noris M, Remuzzi G. Noris M, et al. Kidney Int. 1998 Apr;53(4):1085-6. doi: 10.1111/j.1523-1755.1998.00860.x. Kidney Int. 1998. PMID: 9551421 No abstract available.

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