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Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency

Lookup NU author(s): Dr Rosemary Donne, Professor Judith Goodship, Professor Tim Goodship


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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.

Publication metadata

Author(s): Warwicker P, Donne RL, Goodship JA, Goodship THJ, Howie AJ, Kumararatne DS, Thompson RA, Taylor CM

Publication type: Article

Publication status: Published

Journal: Nephrology Dialysis Transplantation

Year: 1999

Volume: 14

Issue: 5

Pages: 1229-1233

Print publication date: 01/01/1999

ISSN (print): 0931-0509

ISSN (electronic): 1460-2385

Publisher: Oxford University Press


DOI: 10.1093/ndt/14.5.1229

PubMed id: 10344366


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