Article
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2023
Santostefano Marisa, Cappuccilli Maria, Gibertoni Dino, Fabbrizio Benedetta, Malvi Deborah, Demetri Marcello, Capelli Irene, Tringali Edoardo, Papa Valentina, Biagini Elena, Cenacchi Giovanna, Galdi Adriana, Donadio Vincenzo, Liguori Rocco, Zoli Giorgio, La Manna Gaetano, Pasquinelli Gianandrea
Abstract excerpt
RATIONALE & OBJECTIVE: Fabry disease (FD) is an X-linked genetic disorder that causes lysosomal storage of glycosphingolipids, primarily globotriaosylceramide (Gb3) and its derivative globotriaosylsphingosine (lyso-Gb3), with multiorgan dysfunction including chronic kidney disease. Affected individuals may be carriers of gene variants that are of uncertain significance (GVUS). We describe kidney pathology at the...
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