Stroke and Chronic Kidney Disease in Fabry Disease
نویسندگان
چکیده
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of enzyme alpha-galactosidase A (α-Gal A). Multiple organ systems are implicated disease, most severely cardiac, kidney, and central nervous systems. In this brief review, we will focus on kidney system involvement.
منابع مشابه
Fabry Disease Chronic Kidney Disease
Fabry disease (FD) arises from an X-linked defect in lipid storage, whereby deficient or absent lysosomal α-galactosidase A (α-gal A) activity leads to systemic deposition of glycosphingolipids, mainly globotriaosylceramide (known as Gb3 or GL3). Deposition mainly affects the cardiovascular, renal, and neurologic systems, but can occur in all organs, and despite specific enzyme replacement ther...
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ژورنال
عنوان ژورنال: Journal of stroke and cerebrovascular diseases
سال: 2021
ISSN: ['1052-3057', '1532-8511']
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2020.105423