Fabry disease as a trigger of immune-mediated glomerular disease: Clinical hypotheses and literature review

IF 2 4区医学 Q2 UROLOGY & NEPHROLOGY

Nefrologia Pub Date : 2025-01-07 DOI:10.1016/j.nefro.2025.01.003

Javier Martínez de Victoria Carazo , Haylen Marin , Francisco Javier De la Hera Fernández , Carlos Mañero Rodríguez , César Ramírez Tortosa , José Luís Callejas Rubio

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Abstract

Fabry disease (FD) is an X-linked genetic disorder characterized by alpha-galactosidase deficiency, leading to the accumulation of globotriaosylceramide. This accumulation causes multi-organ dysfunction, with renal involvement being particularly significant. Recently, the immunological relationship of this disease has been investigated, including the inactivation of enzyme therapies by antibodies and systemic inflammation. We present the case of a 15-year-old patient with FD and ANCA-associated vasculitis (AAV). A narrative review was conducted by searching PubMed with the terms “Fabry disease” AND “vasculitis” AND “glomerulonephritis,” identifying 9 relevant articles. These cases were compared with the current one, emphasizing pathophysiological aspects. 75% of patients had fever, 50% had peripheral edema, and 25% had otorhinolaryngological involvement. Pauci-immune necrosis was found in 75%. Therapeutically, all cases were treated with plasmapheresis, 75% with cyclophosphamide, and only one case required hemodialysis during follow-up. The association of FD with vasculitis is rare, with only five cases, only one with positive ANCA. The role of the immune system in FD, still not fully understood, seems to contribute significantly to pathogenesis and complications. This case highlights the need for further research on the immunological role in FD and its relationship with vasculitis and other autoimmune diseases.

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法布里病是免疫介导的肾小球疾病的触发因素：临床假设和文献综述

法布里病（FD）是一种以α -半乳糖苷酶缺乏为特征的x连锁遗传疾病，导致球三烷基神经酰胺的积累。这种积累性可引起多器官功能障碍，尤其是累及肾脏。近年来，人们对该病的免疫学关系进行了研究，包括抗体和全身性炎症对酶治疗的失活作用。我们报告了一名15岁的FD和anca相关血管炎（AAV）患者。通过在PubMed中搜索“Fabry病”、“血管炎”和“肾小球肾炎”进行叙述性回顾，确定了9篇相关文章。将这些病例与当前病例进行比较，强调病理生理方面。75%的患者有发热，50%有外周水肿，25%有耳鼻喉受累。75%为包囊免疫坏死。治疗方面，所有病例均采用血浆置换治疗，75%采用环磷酰胺治疗，随访期间仅有1例需要血液透析。FD与血管炎的相关性很少见，仅有5例，其中1例为ANCA阳性。免疫系统在FD中的作用仍未完全了解，但似乎在发病机制和并发症中起着重要作用。本病例提示需要进一步研究FD的免疫学作用及其与血管炎和其他自身免疫性疾病的关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Nefrologia 医学-泌尿学与肾脏学

CiteScore

3.40

自引率

7.70%

发文量

148

审稿时长

47 days

期刊介绍： Nefrología is the official publication of the Spanish Society of Nephrology. The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants. It is governed by the peer review system and all original papers are subject to internal assessment and external reviews. The journal accepts submissions of articles in English and in Spanish languages.