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Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency
P Warwicker1, R L Donne, J A Goodship
1Department of Medicine and Human Genetics, University of Newcastle upon Tyne, Newcastle, UK.
Background:
In a recent study of three families we have found that inherited haemolytic uraemic syndrome (HUS) maps to a region of chromosome 1q containing the gene for complement factor H. In one of these families and also in a case of sporadic D-HUS, we have identified mutations in the factor H gene. A further family with inherited HUS has therefore been investigated.
Methods:
DNA extracted from the family members and DNA extracted from archival post-mortem material from a deceased family member, was studied. Review of renal biopsies and study of complement components was also undertaken.
Results:
This family demonstrates an inherited deficiency of complement factor H. Non-diarrhoeal HUS has affected at least two family members with half normal levels of factor H.
Conclusion:
These findings represent further evidence of the association between factor H dysfunction and HUS.