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Article

Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.

BMC nephrology - 21 Nov 2023

Esposito Pasquale, Caputo Carmela, Repetto Monica, Somaschini Alberto, Pietro Bellone, Colomba Paolo, Zizzo Carmela, Parodi Angelica, Zanetti Valentina, Canepa Marco, Eustachi Virginia, Sanguineri Francesca, Mandich Paola, Viazzi Francesca

Abstract excerpt

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 life expectancy. Due to the availability of specific disease-modifying treatments, proper and timely diagnosis and therapy...

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Identifiers

PMID: 37990184
DOI: 10.1186/s12882-023-03388-8
PMCID: PMC10664682

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