Article
Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.
International journal of molecular sciences - 26 Dec 2025
Grimaldi Amedeo, Auletta Alessandra, Ciurli Francesca, Aiello Valeria, Vischini Gisella, Fabbrizio Benedetta, Becherucci Francesca, Pasquinelli Gianandrea, La Manna Gaetano, Capelli Irene, Mignani Renzo
Abstract excerpt
Fabry disease (FD) is an X-linked lysosomal disorder caused by GLA mutations, typically associated with glycosphingolipid accumulation and a wide phenotypic spectrum. The p.R112H variant is generally linked to a non-classic predominantly renal phenotype with mild biochemical abnormalities and slow progression. We report the case of a young woman carrying the R112H mutation who exhibited early-onset kidney...
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