Clinical Features of Anti-Factor H Autoantibody-Associated Hemolytic Uremic Syndrome
Clinical Features of Anti-Factor H Autoantibody-Associated Hemolytic Uremic Syndrome
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DOI：
10.1681/asn.2010030315
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发表时间：
2010-12-01
影响因子：
13.6
通讯作者：
Fremeaux-Bacchi, Veronique
中科院分区：
文献类型：
--
作者：
Dragon-Durey, Marie-Agnes;Sethi, Sidharth Kumar;Fremeaux-Bacchi, Veronique
非典型溶血性尿毒综合征（阿胡斯）是一种罕见的血栓性微血管病，在70%的病例中，与导致补体旁路途径失调的遗传性或获得性疾病相关。针对H因子的自身抗体导致至少6%至10%的阿胡斯病例，但只有少数临床报告可用。在这里，我们描述了45例与抗FH自身抗体相关的阿胡斯患者的临床、生物学、遗传学特征、治疗和结局。我们发现这种形式的阿胡斯主要影响9至13岁的儿童，但也影响成年人。它表现出高频率的胃肠道症状和肾外并发症，并且有复发过程。疾病发作时补体旁路途径的激活预示着不良预后。早期特异性治疗可能会带来良好的结果。这些数据应该可以提高对这种阿胡斯的识别和诊断，并帮助识别出预后不良的高风险患者。
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.