Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.
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.
Warwicker
P
P
Department of Medicine and Human Genetics, University of Newcastle upon Tyne, Newcastle, UK.
Donne
R L
RL
Goodship
J A
JA
Goodship
T H
TH
Howie
A J
AJ
Kumararatne
D S
DS
Thompson
R A
RA
Taylor
C M
CM
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
C493495:CFH protein, human; D017242:Complement Factor H