Fabry disease - a genetically conditioned extremely rare disease with a very unusual course.

IF 1.1 Q2 MEDICINE, GENERAL & INTERNAL
M. Śnit, Marcela Przyłudzka, W. Grzeszczak
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引用次数: 1

Abstract

Fabry disease (FD) is a rare lysosomal storage disease. FD is caused by the presence of a deleterious mutation in the GLA gene encoding the enzyme alpha galactosidase A (αGAL A) on the X chromosome. The accumulation of Gb3 and lyso-GL-3 in nerve fiber cells, endothelium, vascular muscle cells, mesangial cells, podocytes, renal tubular epithelial cells and cardiomyocytes is the most important pathogenetic factor. The rate of disease progression depends on residual conserved enzymatic activity. In this article we present an example of a 25-year-old patient with FD with an initial asymptomatic course. The first manifestation of FD developed in the third decade of life. These include high blood pressure, urinary changes and grade V renal failure, requiring renal replacement therapy. The diagnosis was made very late, when renal failure and cerebro-cardiac complications occurred, including stroke and dangerous cardiac tamponade.
法布里病——一种遗传条件极其罕见的疾病,病程非常不寻常。
法布里病是一种罕见的溶酶体贮积病。FD是由编码α半乳糖苷酶a (αGAL a)的GLA基因在X染色体上存在有害突变引起的。神经纤维细胞、内皮细胞、血管肌细胞、系膜细胞、足细胞、肾小管上皮细胞和心肌细胞中Gb3和lyso-GL-3的积累是最重要的致病因素。疾病进展的速度取决于剩余的保守酶活性。在这篇文章中,我们提出了一个25岁的FD患者的例子,其初始病程无症状。FD的首次表现出现在生命的第三个十年。这些包括高血压、尿路改变和V级肾衰竭,需要肾脏替代治疗。诊断很晚,当肾功能衰竭和脑心并发症发生,包括中风和危险的心脏填塞。
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
Intractable & rare diseases research
Intractable & rare diseases research MEDICINE, GENERAL & INTERNAL-
CiteScore
2.10
自引率
0.00%
发文量
29
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