家族性复发性溶血尿毒综合征与补体因子H缺乏症。
Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.
作者信息
Warwicker P, Donne R L, Goodship J A, Goodship T H, Howie A J, Kumararatne D S, Thompson R A, Taylor C M
机构信息
Department of Medicine and Human Genetics, University of Newcastle upon Tyne, Newcastle, UK.
出版信息
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.
背景
在最近一项对三个家族的研究中，我们发现遗传性溶血尿毒综合征（HUS）定位于1号染色体上包含补体因子H基因的区域。在其中一个家族以及一例散发性腹泻型溶血尿毒综合征（D-HUS）病例中，我们鉴定出了因子H基因的突变。因此，我们对另一个遗传性溶血尿毒综合征家族进行了研究。
方法
对从家族成员提取的DNA以及从一名已故家族成员的存档尸检材料中提取的DNA进行了研究。还对肾活检进行了回顾，并对补体成分进行了研究。
结果
这个家族表现出补体因子H的遗传性缺乏。非腹泻型溶血尿毒综合征至少影响了两名家族成员，其因子H水平仅为正常水平的一半。
结论
这些发现进一步证明了因子H功能障碍与溶血尿毒综合征之间的关联。
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