Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

Abstract Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids, leading to progressive organ damage and reduced...

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Bibliographic Details
Main Authors: Pasquale Esposito, Carmela Caputo, Monica Repetto, Alberto Somaschini, Bellone Pietro, Paolo Colomba, Carmela Zizzo, Angelica Parodi, Valentina Zanetti, Marco Canepa, Virginia Eustachi, Francesca Sanguineri, Paola Mandich, Francesca Viazzi
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Nephrology
Subjects:
Fabry disease
Fabry nephropathy
Kidney biopsy
Chronic kidney disease
Glomerulonephritis
ADPKD
Online Access:https://doi.org/10.1186/s12882-023-03388-8

Internet

https://doi.org/10.1186/s12882-023-03388-8

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