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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.
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
URL: http://dx.doi.org/10.1093/ndt/14.5.1229
DOI: 10.1093/ndt/14.5.1229
PubMed id: 10344366
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