title: Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.
abstract: 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.
  
  
  CONCLUSIONS
  These findings represent further evidence of the association between factor H dysfunction and HUS.
authors.affiliation: Department of Medicine and Human Genetics, University of Newcastle upon Tyne, Newcastle, UK.
authors.forename: P
authors.initials: P
authors.lastname: Warwicker
authors.forename: R L
authors.initials: RL
authors.lastname: Donne
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
authors.forename: T H
authors.initials: TH
authors.lastname: Goodship
authors.forename: A J
authors.initials: AJ
authors.lastname: Howie
authors.forename: D S
authors.initials: DS
authors.lastname: Kumararatne
authors.forename: R A
authors.initials: RA
authors.lastname: Thompson
authors.forename: C M
authors.initials: CM
authors.lastname: Taylor
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D017242:Complement Factor H / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006463:Hemolytic-Uremic Syndrome / Q000097:blood* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D012008:Recurrence
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H