非典型溶血性尿毒症综合征:诊断、管理和停止治疗。

IF 2.9 3区 教育学 Q1 EDUCATION, SCIENTIFIC DISCIPLINES Hematology. American Society of Hematology. Education Program Pub Date : 2024-12-06 DOI:10.1182/hematology.2024000543
Anuja Java
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引用次数: 0

摘要

非典型溶血性尿毒症综合征(aHUS)是一种以贫血、血小板减少和终末器官损伤为典型特征的血栓性微血管疾病。aHUS的发生是由于补体系统替代通路过度激活导致的内皮损伤。补体系统失调的病因是一种或多种补体蛋白的基因突变或由于自身抗体而获得的缺陷。在过去的十年中,我们对补体在aHUS病理生理学中的作用的理解以及抗补体药物的可用性的进步已经改变了我们的患者的游戏规则。这些药物彻底改变了这种疾病的临床过程、结果和预后。因此,所有疑似aHUS的患者都应进行补体遗传变异和自身抗体检测。在大约30%至40%的患者中,可能会发现不确定意义的遗传变异(VUS)。此类患者应接受进一步检测以确定VUS的意义。抗原、功能和生物标志物分析的结合可以帮助确定变异的意义,从而确定大多数患者的病因。这些分析也将有助于根据个体的基因改变来确定治疗的持续时间。本综述旨在阐明aHUS的诊断和管理,并讨论如何对患者进行分层,以确定谁可以安全地停止抗补体治疗。
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Atypical hemolytic uremic syndrome: diagnosis, management, and discontinuation of therapy.

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy typically characterized by anemia, thrombocytopenia, and end-organ injury. aHUS occurs due to endothelial injury resulting from overactivation of the alternative pathway of the complement system. The etiology of the dysregulated complement system is either a genetic mutation in 1 or more complement proteins or an acquired deficiency due to autoantibodies. Over the past decade, advancements in our understanding of the role of complement in the pathophysiology of aHUS as well as the availability of anticomplement drugs has been a game-changer for our patients. These drugs have revolutionized the clinical course, outcome, and prognosis of this disease. Therefore, all patients in whom aHUS is suspected should undergo testing for complement genetic variants and autoantibodies. In approximately 30% to 40% of patients, a genetic variant of uncertain significance (VUS) may be identified. Such patients should undergo further testing to define the significance of the VUS. A combination of antigenic, functional, and biomarker analyses can assist in establishing the significance of the variants and thereby define the etiology in most patients. These analyses will also help to determine the duration of treatment based on the individual's genetic alteration. This review aims to shed light on the diagnosis and management of aHUS and discusses how to stratify patients to determine who can safely discontinue anticomplement therapy.

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来源期刊
Hematology. American Society of Hematology. Education Program
Hematology. American Society of Hematology. Education Program EDUCATION, SCIENTIFIC DISCIPLINES-HEMATOLOGY
CiteScore
4.70
自引率
3.30%
发文量
0
期刊介绍: Hematology, the ASH Education Program, is published annually by the American Society of Hematology (ASH) in one volume per year.
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