Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency

Background. In a recent study of three families we have found that inherite d haemolytic uraemic syndrome (HUS) maps to a region of chromosome 1q conta ining the gene for complement factor H. In one of these families and also i n a case of sporadic D-HUS, we have identified mutations in the factor H ge ne. A further family with inherited HUS has therefore been investigated. Methods. DNA extracted from the family members and DNA extracted from archi val 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 fac tor H. Non-diarrhoeal HUS has affected at least two family members with hal f normal levels of factor H. Conclusion. These findings represent further evidence of the association be tween factor H dysfunction and HUS.