Rougier N, Kazatchkine M D, Rougier J P, Fremeaux-Bacchi V, Blouin J, Deschenes G, Soto B, Baudouin V, Pautard B, Proesmans W, Weiss E, Weiss L
Service d'Immunologie, Hôpital Broussais, Paris, France.
J Am Soc Nephrol. 1998 Dec;9(12):2318-26. doi: 10.1681/ASN.V9122318.
This study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS.
本研究报告了6例急性肾病患者存在人补体调节蛋白H因子（FH）缺乏的病例。其中5例在患有特发性溶血尿毒综合征（HUS）的儿童中观察到。2名儿童表现为纯合子缺乏，其特征是缺乏150-kD形式的FH，免疫印迹显示存在42-kD的H因子样蛋白1（FHL-1）和其他FH相关蛋白（FHR）条带。对一名纯合子缺乏患者的DNA进行Southern印迹和PCR分析，排除了FH基因大缺失作为该缺乏症潜在缺陷的存在。其他4名儿童表现为杂合子缺乏，且FH家族蛋白的免疫印迹模式正常。FH缺乏是与HUS相关的唯一补体缺乏症。这些观察结果提示FH和/或FH受体在特发性HUS发病机制中起作用。
