法布里病表现为终末期肾病。

Glomerular diseases Pub Date : 2023-08-16 eCollection Date: 2023-01-01 DOI:10.1159/000533502
Madeleine V Pahl, Jean Hou
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摘要

背景:法布里病(FD)是一种X连锁疾病,由编码α-半乳糖苷酶的GLA基因的致病性变体引起。酶活性的降低或缺失导致球三糖神经酰胺及其衍生物球三糖基鞘氨醇在各种细胞中的溶酶体积累,导致各种并发症,包括心脏、肾脏和脑血管疾病。早期诊断对于选择治疗方法至关重要,而治疗方法对改善疗效至关重要。在这里,我们介绍了一个在终末期肾病表现时诊断为FD的病例。摘要:一名有癫痫病史的40岁男性出现血清肌酐升高、肾病性蛋白尿和新发高血压。肾活检显示,足细胞、肾小球管周毛细血管内皮细胞、系膜细胞、动脉肌细胞和间质巨噬细胞中存在大量螺旋状和片状的细胞质内含物。超微结构分析证实了鞘糖脂内含物和增大的溶酶体的存在,溶酶体充满了多层结构(“斑马”体)。这些发现提示溶酶体储存障碍,α-半乳糖苷酶a水平检测显示酶活性几乎缺失,证实了晚期FD的诊断。关键信息:FD的诊断可能具有挑战性,因为该疾病的表现是非特异性的,患者可能早期出现经典症状,晚期出现非经典受累模式。我们将通过回顾经典和非经典的表现来讨论早期识别该疾病的策略,并进一步概述目前可用的和潜在的未来治疗方案。
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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Fabry Disease Presenting as End-Stage Kidney Disease.

Background: Fabry disease (FD) is an X-linked disorder due to a pathogenic variant of the GLA gene that codes for the alpha-galactosidase enzyme. The reduced or absent activity of the enzyme results in lysosomal accumulation of globotriosylceramide and its derivative, globotriaosylsphingosine, in a variety of cells, leading to a variety of complications including cardiac, renal, and cerebrovascular disorders. Early diagnosis is critically important for the selection of therapeutic treatments, which are essential for improving outcomes. Here we present a case of FD diagnosed at the time of end-stage kidney disease presentation.

Summary: A 40-year-old man with a history of seizures presented with increased serum creatinine, nephrotic rage proteinuria, and new-onset hypertension. A renal biopsy revealed numerous, whorled, and lamellated cytoplasmic inclusions in podocytes, glomerular peritubular capillary endothelial cells, mesangial cells, arterial myocytes, and interstitial macrophages. Ultrastructural analysis confirmed the presence of glycosphingolipid inclusions and enlarged lysosomes packed with multi-lamellated structures ("zebra" bodies). The findings were suggestive of a lysosomal storage disorder, and testing for alpha-galactosidase A levels revealed near-absent enzyme activity, confirming the diagnosis of advanced FD.

Key messages: The diagnosis of FD can be challenging as the manifestations of the disease are nonspecific, and patients can present early with classical symptoms or late with non-classical patterns of involvement. We will discuss strategies to identify the disorder early by reviewing the classical and non-classical presentations and further outline currently available and potential future treatment options.

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