Kavanagh David, Richards Anna, Atkinson John
Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St. Louis, Missouri, USA.
Annu Rev Med. 2008;59:293-309. doi: 10.1146/annurev.med.59.060106.185110.
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.
溶血性尿毒症综合征是一种由微血管病性溶血性贫血、血小板减少症和急性肾衰竭组成的三联征。它是一组被称为血栓性微血管病的疾病之一，其特征是内皮细胞明显损伤。它可能与腹泻相关或为非典型性（非典型溶血性尿毒症综合征，aHUS）。补体替代途径的致病作用证据最早于1974年被提出。补体调节蛋白因子H、膜辅助因子蛋白（CD46）和因子I的突变易导致aHUS的发生。也有报道称激活成分因子B和补体C3的突变。外显率约为50%，这表明疾病表达还需要其他遗传和环境修饰因素。由于死亡率、肾脏存活率和肾移植结果存在差异，因此突变的鉴定很重要。目前的治疗方法是血浆输注/置换，但补体抑制剂疗法为未来带来了希望。
