Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/41492
Título: Fabry Nephropathy: An evidence-based narrative review
Autores/as: Del Pino, María Dolores
Andrés, Amado
Bernabéu, Ana Ávila
De Juan-Rivera, Joaquín
Fernández, Elvira
De Dios García Díaz, Juan
Hernández, Domingo
Luño, José
Martínez Fernández, Isabel
Paniagua, José
Posada de la Paz, Manuel
Rodríguez-Pérez, José Carlos 
Santamaría, Rafael
Torra, Roser
Torras Ambros, Joan
Vidau, Pedro
Torregrosa, Josep Vicent
Clasificación UNESCO: 32 Ciencias médicas
Palabras clave: Fabry disease
Nephropathy
Proteinuria
Enzyme replacement therapy
Inherited disorder
Fecha de publicación: 2018
Publicación seriada: Kidney and Blood Pressure Research 
Resumen: Basel Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-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.
URI: http://hdl.handle.net/10553/41492
ISSN: 1420-4096
DOI: 10.1159/000488121
Fuente: Kidney and Blood Pressure Research[ISSN 1420-4096],v. 43, p. 406-421
Colección:Artículos
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