Hemolytic uremic syndrome is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. It is one of a group of conditions termed the thrombotic microangiopathies, which are characterized by prominent endothelial cell injury. It may be diarrheal-associated or atypical (aHUS). Evidence for a pathogenic role of the alternative pathway of complement was first suggested in 1974. Mutations in the complement regulatory proteins factor H, membrane cofactor protein (CD46), and factor I predispose to aHUS development. Mutations of the activating components factor B and complement C3 have also been reported. Penetrance is approximately 50%, suggesting other genetic and environmental modifiers are needed for disease expression. Identification of mutations is important owing to differences in mortality, renal survival, and outcome of renal transplantation. Current treatment is plasma infusion/exchange, but complement inhibitor therapy provides hope for the future.

中文翻译：

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补充调节基因和溶血性尿毒症综合征。

溶血性尿毒症综合征是微血管性溶血性贫血，血小板减少症和急性肾衰竭的三联征。它是被称为血栓性微血管病的一组病症中的一种，其特征在于明显的内皮细胞损伤。它可能是腹泻相关性或非典型性（aHUS）。1974年首次提出了补体替代途径的致病作用的证据。补体调节蛋白H因子，膜辅因子蛋白CD46和I因子的突变会促进aHUS的发展。还已经报道了活化成分因子B和补体C3的突变。渗透率约为50％，表明疾病表达还需要其他遗传和环境修饰因子。由于死亡率，肾脏存活率，和肾移植的结果。目前的治疗方法是血浆输注/交换，但是补体抑制剂治疗为未来提供了希望。