Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency

Nephrol Dial Transplant. 1999 May;14(5):1229-33. doi: 10.1093/ndt/14.5.1229.


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 types

  • Case Reports

MeSH terms

  • Adolescent
  • Child, Preschool
  • Complement Factor H / deficiency*
  • Complement Factor H / genetics*
  • Female
  • Hemolytic-Uremic Syndrome / blood*
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / pathology
  • Humans
  • Infant
  • Kidney Glomerulus / pathology
  • Male
  • Mutation
  • Pedigree
  • Recurrence


  • CFH protein, human
  • Complement Factor H