Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France.
J Am Soc Nephrol. 2010 Dec;21(12):2180-7. doi: 10.1681/ASN.2010030315. Epub 2010 Nov 4.
Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy that associates, in 70% of cases, with genetic or acquired disorders leading to dysregulation of the alternative pathway of complement. Autoantibody directed against Factor H causes at least 6% to 10% of aHUS cases, but only a few clinical reports are available. Here, we describe the clinical, biologic, genetic features, treatment, and outcome of 45 patients who presented with aHUS associated with anti-FH autoantibody. We found that this form of aHUS primarily affects children between 9 and 13 years old but it also affects adults. It presents with a high frequency of gastrointestinal symptoms and with extrarenal complications and has a relapsing course. Activation of the alternative pathway of complement at the onset of disease portends a poor prognosis. Early specific treatment may lead to favorable outcomes. These data should improve the recognition and diagnosis of this form of aHUS and help identify patients at high risk of a poor outcome.
非典型溶血性尿毒症综合征（aHUS）是一种罕见的血栓性微血管病，70%的病例与导致补体替代途径失调的遗传或获得性疾病有关。针对因子 H 的自身抗体引起至少 6%至 10%的 aHUS 病例，但仅有少数临床报告。在这里，我们描述了 45 名患有抗 FH 自身抗体相关 aHUS 的患者的临床、生物学、遗传学特征、治疗和预后。我们发现，这种形式的 aHUS 主要影响 9 至 13 岁的儿童，但也影响成年人。它常伴有胃肠道症状和肾脏以外的并发症，呈反复发作的病程。疾病发作时补体替代途径的激活预示着预后不良。早期的特异性治疗可能会带来良好的结果。这些数据应有助于提高对这种形式的 aHUS 的认识和诊断，并有助于识别预后不良风险较高的患者。
