一名终末期肾病患者的法布里病伴心血管表现。

Q4 Medicine
Ceskoslovenska patologie Pub Date : 2021-01-01
Hana Skopcová, Gabriela Dostálová, Tomáš Paleček, Aleš Linhart, Eva Honsová
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引用次数: 0

摘要

法布里病(Fabry disease)是一种罕见的由α -半乳糖苷酶a编码基因突变引起的x连锁遗传性贮藏病,其经典疾病形式的临床表现不同,取决于个体器官的受累程度,尤其是肾脏、心肌、中枢神经系统(CNS)和皮肤。我们报告一个51岁男性的病例,其诊断表现为心脏受累导致心内膜心肌活检,这对诊断有重要贡献。尽管那时他已经有9年的时间依靠透析治疗晚期肾衰竭。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease.

Fabry disease is a rare X-linked hereditary storage disease caused by a mutation of the gene encoding alpha-galactosidase A. The clinical manifestation of the classical disease form is variable depending on the degree of individual organs involvement, including especially kidney, myocardium, central nervous system (CNS) and skin. We report a case of a 51-year-old man whose diagnostic manifestation was cardiac involvement leading to endomyocardial biopsy, which significantly contributed to the diagnosis. Although at that time he was already 9 years dependent on dialysis with terminal renal failure.

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来源期刊
Ceskoslovenska patologie
Ceskoslovenska patologie Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
17
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