Fabry Disease in Kidneys: Three Clinical Cases and Literature Review
Author：LIAO Ying, He Li-juan, CHEN Hong-tao,et al.
affiliation：Deparment of nephrology, the First Affiliated Hospital of Shenzhen University, Guangdong Province
PDFAbstract
Fabry disease is a rare genetic lysosomal storage disease due to a deficiency of the enzyme alpha galactosidase A. This causes significant accumulation of ceramide trihexoside in thevascular endothelium, smooth muscle cells, cardiac muscle, kidney, cornea and central nervous system. Fabry disease can cause a wide range of systemic symptoms. This is a retrospective analysis of three clinical cases from our nephrology department in the past four years. We investigated the clinical manifestations, and characteristics of the light microscopy, immunofluorescence and electron microscopic examination of the renal biopsy. This study is attributable to the accurate diagnosis and appropriate treatment of Fabry disease.
【Keyword】Fabry Disease; Genetic Renal Disease
【Chart number】R39；R9
【Document Identification Number】A
【DOI】10.3969/j.issn.1009-3257.2015.03.017
Journal of Rare Diseases
th22Volume， th 3 Issue
2019Year11Month
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