Division of Nephrology.
Division of Hematology Oncology, Department of Medicine, David Geffen School of Medicine.
Curr Opin Nephrol Hypertens. 2019 May;28(3):278-287. doi: 10.1097/MNH.0000000000000499.
Atypical hemolytic uremic syndrome (aHUS) is a diagnosis that has captured the interest of specialists across multiple fields. The hallmark features of aHUS are microangiopathic hemolysis and thrombocytopenia, which creates a diagnostic dilemma because of the occurrence of these findings in a wide variety of clinical disorders.
In most of the instances, aHUS is a diagnosis of exclusion after ruling out causes such as Shigella toxin, acquired or genetic a disintegrin and metalloproteinase thrombospondin motif 13 deficiency (thrombotic thrombocytopenic purpura), and vitamin B12 deficiency. In the purest sense, aHUS is a genetic condition that is activated (or unmasked) by an environmental exposure. However, it is now evident that complement activation is a feature of many diseases. Variants in complement regulatory genes predispose to microangiopathic hemolysis in many rheumatologic, oncologic, and drug-induced vascular, obstetric, peritransplant, and infectious syndromes.
Many 'hemolysis syndromes' overlap clinically with aHUS, and we review the literature on the treatment of these conditions with complement inhibition. New reports on the treatment of C3 glomerulopathy, Shiga toxin-related classic hemolytic uremic syndrome, and medication-related thrombotic microangiopathy will be reviewed as well.
非典型溶血尿毒综合征（aHUS）是一种引起多个领域专家关注的诊断。aHUS 的主要特征是微血管病性溶血性贫血和血小板减少症，由于这些发现出现在多种临床疾病中，因此造成了诊断上的困境。
在大多数情况下，在排除志贺毒素、获得性或遗传性 a 型血小板反应蛋白 13 缺乏症（血栓性血小板减少性紫癜）和维生素 B12 缺乏等原因后，即可诊断为 aHUS。从最纯粹的意义上讲，aHUS 是一种遗传疾病，可被环境暴露激活（或显现）。然而，现在很明显，补体激活是许多疾病的一个特征。补体调节基因的变异易导致许多风湿性疾病、肿瘤性疾病以及药物诱导的血管性疾病、产科疾病、移植围手术期疾病和感染性疾病中的微血管病性溶血性贫血。
许多“溶血性综合征”在临床上与 aHUS 重叠，我们将综述这些疾病使用补体抑制治疗的文献。还将回顾关于 C3 肾小球病、志贺毒素相关经典溶血尿毒综合征和药物相关性血栓性微血管病的治疗新报告。
