Nephrology Dialysis Transplantation, Vol 14, Issue 5 1229-1233, Copyright © 1999 by Oxford University Press
P Warwicker, R Donne, J Goodship, T Goodship, A Howie, D Kumararatne, R Thompson and C Taylor
Background. In a recent study of three families we
have found that inherited haemolytic uraemic syndrome (HUS) maps to a
region of chromosome lq 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.
Keywords: complement; complement factor H; haemolytic
uraemic syndrome
PRELIMINARY REPORTS
Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency
Departments of Medicine and Human Genetics, University of Newcastle upon Tyne, Newcastle, UK; Department of Pathology, University of Birmingham, Birmingham, UK; Regional Immunology Department, Birmingham Heartlands Hospital, Department of Nephrology, The Birmingham Children's Hospital, Birmingham, UK; Corresponding author address: Lister Hospital, Coreys Mill Lane, Stevenage, Hertfordshire SG1 4AB, UK
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