The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.
Nephron Clin Pract. 2011;118(1):c37-42. doi: 10.1159/000320901. Epub 2010 Nov 11.
Atypical haemolytic uraemic syndrome (aHUS) is a disease characterized by complement overactivation in which inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Identification of the underlying defect can both predict disease outcome and guide treatment. The ability to remove inhibitory autoantibodies and hyper-active complement components in addition to its ability to replace defective complement regulators means that plasma exchange is currently first-line therapy. In those with factor H and factor I mutations who do progress to end-stage renal failure, renal transplantation usually fails due to recurrent HUS. In this situation, combined liver-kidney transplantation has been suggested to correct the underlying genetic defect. Newer agents, such as the complement inhibitor eculizumab, may herald a new era in the treatment of aHUS.
非典型溶血尿毒症综合征（aHUS）是一种以补体过度激活为特征的疾病，其中已描述了补体基因的遗传缺陷和针对补体调节蛋白的获得性自身抗体。潜在缺陷的鉴定不仅可以预测疾病结局，还可以指导治疗。除了能够替代有缺陷的补体调节蛋白外，血浆置换还具有去除抑制性自身抗体和高活性补体成分的能力，因此目前是一线治疗方法。在那些因子 H 和因子 I 突变并进展至终末期肾衰竭的患者中，由于复发性 HUS，肾移植通常会失败。在这种情况下，联合肝肾移植已被建议用于纠正潜在的遗传缺陷。新型药物，如补体抑制剂依库珠单抗，可能预示着 aHUS 治疗的新时代的到来。
