Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening

被引：0
作者：
Zewei Chen
Bo Yin
Juan Jiao
Tianyang Ye
机构：
[1] Department of Nephrology,
[2] The First Navy Hospital of Southern Theater Command,undefined
[3] Department of Internal Medicine,undefined
[4] The First Navy Hospital of Southern Theater Command,undefined
来源：
BMC Nephrology | / 25卷
关键词：
Fabry disease; Enzyme replacement therapy; Agalsidase α; Fabry nephropathy; Genetic testing;
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摘要：
Fabry disease (FD) is an uncommon, X-linked, lysosomal storage disease that causes defects in the glycosphingolipid metabolic pathway due to deficient or absent lysosomal α-galactosidase (α-Gal A) activity. This leads to the accumulation of globotriaosylceramide (GL-3) within lysosomes in a wide range of cells, including endothelial, cardiac, renal, and corneal cells, and consequently, the progressive appearance of clinical symptoms in target organs. Enzyme replacement therapy (ERT), which involves the exogenous supplementation of α-Gal A enzyme and has been successfully administered for treating FD.
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