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补体因子 I 基因变异在嗜酸性粒细胞增多综合征引发的非典型溶血尿毒综合征中的作用。

Complement Factor I Gene Variant in an Atypical Hemolytic Uremic Syndrome Triggered by Hypereosinophilia Syndrome.

机构信息

Nephrology Unit, Department of Medicine, Vichaiyut Hospital, Bangkok, Thailand.

Division of Nephrology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

出版信息

Nephron. 2023;147(11):701-706. doi: 10.1159/000531879. Epub 2023 Aug 23.

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a condition characterized by acute kidney injury (AKI), thrombocytopenia, and microangiopathic hemolytic anemia secondary to complement pathway dysregulation. Several triggers have been identified as causing aHUS in genetically susceptible patients; however, hypereosinophilia syndrome (HES)-triggered aHUS has not been reported. In this article, we present a case of aHUS presented with generalized urticarial rashes and angioedema. The initial investigations revealed hypereosinophilia (maximal absolute eosinophil count of 6,840 cells/µL) with normal bone-marrow analyses; hence, idiopathic HES was diagnosed. During hospitalization, the patient developed convulsion, stuporous, and full-blown thrombotic microangiopathy (TMA), with AKI requiring temporary hemodialysis. A kidney biopsy confirmed the existence of renal TMA. Next-generation sequencing of the coding regions of aHUS-related genes was performed, revealing an underlying complement factor I (CFI) deficiency, a heterozygous variant p.P64L of CFI gene. The patient was successfully treated with high-dose steroids and extended duration of plasmapheresis.

摘要

非典型溶血尿毒综合征(aHUS)是一种以急性肾损伤(AKI)、血小板减少和补体途径失调引起的微血管性溶血性贫血为特征的疾病。已经确定了几种触发因素可导致遗传易感患者发生 aHUS;然而,嗜酸性粒细胞增多症综合征(HES)触发的 aHUS 尚未报道。本文报道了一例以全身性荨麻疹性皮疹和血管性水肿为表现的 aHUS 病例。最初的检查显示嗜酸性粒细胞增多症(最大绝对嗜酸性粒细胞计数为 6,840 个/µL),骨髓分析正常;因此,诊断为特发性 HES。住院期间,患者出现抽搐、昏迷和完全性血栓性微血管病(TMA),伴有 AKI,需要临时血液透析。肾活检证实存在肾 TMA。对与 aHUS 相关基因的编码区进行下一代测序,发现存在补体因子 I(CFI)缺陷,CFI 基因的杂合变体 p.P64L。该患者经大剂量类固醇和延长时间的血浆置换治疗后成功治愈。

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