Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 1999
Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Warwicker P, Donne R L, Goodship J A, Goodship T H, Howie A J, Kumararatne D S, Thompson R A, Taylor C M
Аннотация
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.
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.