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2018-01-01

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cc-by-nc-nd (c) Pino, María Dolores del et al., 2018
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/123997

Fabry Nephropathy: An Evidence-based Narrative Review

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https://doi.org/10.1159/000488121

Resum

Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, endothelial cells, epithelial cells, and tubular cells contribute to the renal symptoms of FD, which manifest as proteinuria and reduced glomerular filtration rate leading to renal insufficiency. A correct diagnosis of FD, although challenging, has considerable implications regarding treatment, management, and counseling. The diagnosis may be confirmed by demonstrating the enzyme deficiency in males and by identifying the specific GLA gene mutation in male and female patients. Treatment with enzyme replacement therapy, as part of the therapeutic strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline, particularly in the early stages of the disease. Emergent treatments for FD include the recently approved chaperone molecule migalastat for patients with amenable mutations. The objective of this report is to provide an updated overview on Fabry nephropathy, with a focus on the most relevant aspects of its epidemiology, diagnosis, pathophysiology, and treatment options. (C) 2018 The Author(s) Published by S. Karger AG, Basel.

Matèries

Malaltia de Fabry, Nefrologia, Proteïnúria

Matèries (anglès)

Fabry's disease, Nephrology, Proteinuria

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

PINO Y PINO, María dolores del, ANDRÉS, Amado, BERNABEU-SANZ, Ana ávila, JUAN-RIVERA, Joaquín de, FERNÁNDEZ, Elvira, GARCÍA DÍAZ, Juan de dios, HERNÁNDEZ, Domingo, LUÑO, José, MARTÍNEZ FERNÁNDEZ, Isabel, PANIAGUA, José, POSADA DE LA PAZ, Manuel, RODRÍGUEZ-PÉREZ, José carlos, SANTAMARÍA, Rafael, TORRA, Roser, TORRAS AMBRÒS, Joan, VIDAU, Pedro, TORREGROSA PRATS, José vicente. Fabry Nephropathy: An Evidence-based Narrative Review. _Kidney & Blood Pressure Research_. 2018. Vol. 43, núm. Issue 2, pàgs. 406-421. [consulta: 27 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/123997]

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