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

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

Abstract 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...

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Bibliographic Details
Main Authors: Zewei Chen, Bo Yin, Juan Jiao, Tianyang Ye
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Nephrology
Subjects:
Fabry disease
Enzyme replacement therapy
Agalsidase α
Fabry nephropathy
Genetic testing
Online Access:https://doi.org/10.1186/s12882-024-03499-w

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