Studies of complement genetics have changed the landscape of thrombotic microangiopathies (TMAs), particularly atypical haemolytic uraemic syndrome (aHUS). Knowledge of complement genetics paved the way for the design of the first specific treatment for aHUS, eculizumab, and is increasingly being used to aid decisions regarding discontinuation of anti-complement treatment in this setting. Complement genetic studies have also been used to investigate the pathogenic mechanisms that underlie other forms of HUS and provided evidence that contributed to the reclassification of pregnancy- and postpartum-associated HUS within the spectrum of complement-mediated aHUS. By contrast, complement genetics has not provided definite evidence of a link between constitutional complement dysregulation and secondary forms of HUS. Therefore, the available data do not support systematic testing of complement genes in patients with typical HUS or secondary HUS. The potential relevance of complement genetics for distinguishing the underlying mechanisms of malignant hypertension-associated TMA should be assessed with caution owing to the overlap between aHUS and other causes of malignant hypertension. In all cases, the interpretation of complement genetics results remains complex, as even complement-mediated aHUS is not a classical monogenic disease. Such interpretation requires the input of trained geneticists and experts who have a comprehensive view of complement biology.

补体遗传学研究改变了血栓性微血管病 (TMA)，尤其是非典型溶血性尿毒症综合征 (aHUS) 的前景。补体遗传学的知识为设计第一个针对 aHUS 的特异性治疗药物依库珠单抗铺平了道路，并且越来越多地被用于帮助决定在这种情况下停止抗补体治疗。补体遗传学研究也被用于研究其他形式 HUS 的致病机制，并提供了有助于将妊娠和产后相关 HUS 重新分类到补体介导的 aHUS 范围内的证据。相比之下，补体遗传学并未提供确定的证据证明体质性补体失调与继发性 HUS 之间存在联系。所以，现有数据不支持对典型 HUS 或继发性 HUS 患者进行补体基因的系统检测。由于 aHUS 与恶性高血压的其他原因之间存在重叠，应谨慎评估补体遗传学在区分恶性高血压相关 TMA 潜在机制方面的潜在相关性。在所有情况下，补体遗传学结果的解释仍然很复杂，因为即使是补体介导的 aHUS 也不是经典的单基因疾病。这种解释需要训练有素的遗传学家和对补体生物学有全面了解的专家的投入。由于 aHUS 与恶性高血压的其他原因之间存在重叠，应谨慎评估补体遗传学在区分恶性高血压相关 TMA 潜在机制方面的潜在相关性。在所有情况下，补体遗传学结果的解释仍然很复杂，因为即使是补体介导的 aHUS 也不是经典的单基因疾病。这种解释需要训练有素的遗传学家和对补体生物学有全面了解的专家的投入。由于 aHUS 与恶性高血压的其他原因之间存在重叠，应谨慎评估补体遗传学在区分恶性高血压相关 TMA 潜在机制方面的潜在相关性。在所有情况下，补体遗传学结果的解释仍然很复杂，因为即使是补体介导的 aHUS 也不是经典的单基因疾病。这种解释需要训练有素的遗传学家和对补体生物学有全面了解的专家的投入。