Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/123997
Title: Fabry Nephropathy: An Evidence-based Narrative Review
Author: 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, Josep-Vicent
Keywords: Malaltia de Fabry
Nefrologia
Proteïnúria
Fabry's disease
Nephrology
Proteinuria
Issue Date: 1-Jan-2018
Publisher: Karger
Abstract: 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.
Note: Reproducció del document publicat a: https://doi.org/10.1159/000488121
It is part of: Kidney & Blood Pressure Research, 2018, Vol. 43, Issue 2, P. 406-421
URI: http://hdl.handle.net/2445/123997
Related resource: https://doi.org/10.1159/000488121
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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