血栓性微血管病的鉴别诊断:登革热感染患者中TTP和补体介导的TMA的重叠特征

IF 1.8 4区 医学 Q2 UROLOGY & NEPHROLOGY
Nephron Pub Date : 2025-08-02 DOI:10.1159/000547796
Gabriel Sartori Pacini, Renato George Eick, Renata Asnis Schuchmann, Mário Sergio Fernandes, Lucas Gobetti da Luz, Illan George Balestrin, Karla Lais Pêgas, Milton Kalil, Maurício Lutzky
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引用次数: 0

摘要

背景:血栓性微血管病(TMA)包括一组罕见的、危及生命的疾病,其特征为微血管病性溶血性贫血、血小板减少症和器官损害,最常影响肾脏。补体介导的TMA (CM-TMA)是TMA的一种亚型,通常与基因突变引起的补体系统失调有关。登革热病毒已被认为是继发性TMA的潜在触发因素,并可能在遗传易感个体中沉淀CM-TMA。病例介绍:我们报告一例47岁的女性,有血栓性血小板减少性紫癜(TTP)病史,表现为发热、胃肠道症状、贫血、血小板减少和急性肾损伤。NS1抗原阳性证实登革热感染。实验室和外周涂片显示TMA。治疗性血浆置换(TPE)因既往TTP病史而开始,部分临床反应。ADAMTS13活性保持在60.7%。肾活检显示TMA特征。基因检测发现CD46基因的杂合致病变异,支持CM-TMA的诊断。值得注意的是,患者在不使用eculizumab的情况下表现出持续的临床改善。结论:该病例说明了TMA在具有重叠临床特征和潜在感染诱因的患者中的诊断挑战。在登革热流行地区,应认识到该病毒是诱发TMA的可能因素,特别是在携带补体基因突变的个体中。综合临床、实验室、组织病理学和遗传数据的多学科方法对于TMA综合征的准确诊断和个性化管理至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Differential Diagnosis of Thrombotic Microangiopathy: Overlapping Features of Thrombotic Thrombocytopenic Purpura and Complement-Mediated Thrombotic Microangiopathy in a Dengue-Infected Patient.

Background: Thrombotic microangiopathy (TMA) encompasses a group of rare, life-threatening disorders characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage, most commonly affecting the kidneys. Complement-mediated TMA (CM-TMA), a subtype of TMA, is often associated with dysregulation of the complement system due to genetic mutations. Dengue virus has been recognized as a potential trigger of secondary TMA and may precipitate CM-TMA in genetically predisposed individuals.

Case presentation: We report the case of a 47-year-old woman with a history of thrombotic thrombocytopenic purpura (TTP) who presented with fever, gastrointestinal symptoms, anemia, thrombocytopenia, and acute kidney injury. Dengue infection was confirmed by a positive NS1 antigen. Laboratory and peripheral smear findings indicated TMA. Therapeutic plasma exchange was started due to previous history of TTP, with partial clinical response. ADAMTS13 activity was preserved at 60.7%. Kidney biopsy demonstrated features of TMA. Genetic testing identified a heterozygous pathogenic variant in the CD46 gene, supporting the diagnosis of CM-TMA. Notably, the patient showed sustained clinical improvement without the use of eculizumab.

Conclusion: This case illustrates the diagnostic challenges of TMA in patients with overlapping clinical features and potential infectious triggers. In dengue-endemic regions, the virus should be recognized as a possible precipitating factor for TMA, particularly in individuals harboring complement gene mutations. A multidisciplinary approach - integrating clinical, laboratory, histopathological, and genetic data - is essential for accurate diagnosis and personalized management of TMA syndromes.

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来源期刊
Nephron
Nephron UROLOGY & NEPHROLOGY-
CiteScore
5.00
自引率
0.00%
发文量
80
期刊介绍: ''Nephron'' comprises three sections, which are each under the editorship of internationally recognized leaders and served by specialized Associate Editors. Apart from high-quality original research, ''Nephron'' publishes invited reviews/minireviews on up-to-date topics. Papers undergo an innovative and transparent peer review process encompassing a Presentation Report which assesses and summarizes the presentation of the paper in an unbiased and standardized way.
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