Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/11227
Título
Fabry Nephropathy: An Evidence-Based Narrative Review.
Autor(es)
Del Pino, María | Andrés, Amado | Ávila Bernabéu, Ana | 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 ISCIII | Rodríguez-Pérez, José Carlos | Santamaría, Rafael | Torra, Roser | Torras Ambros, Joan | Vidau, Pedro | Torregrosa, Josep-Vicent
Fecha de publicación
2018
Cita
Kidney Blood Press Res . 2018;43(2):406-421.
Idioma
Inglés
Tipo de documento
journal article
Resumen
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.
MESH
1-Deoxynojirimycin | Enzyme Replacement Therapy | Fabry Disease | Female | Galactosidases | Humans | Kidney Diseases | Male | Trihexosylceramides
Descripción
Erratum: Kidney and Blood Pressure Research. Kidney Dis (Basel). 2022 Feb 10;8(2):180. doi: 10.1159/000522306. PMID: 35527990
Versión en línea
DOI
Aparece en las colecciones
- Investigación > ISCIII > Instituto de Investigación de Enfermedades Raras (IIER)
- Investigación > IIS > IRB LÉRIDA - Instituto de Investigación Biomédica de Lérida (Cataluña)
- Investigación > IIS > IIB Sant Pau - Instituto de Investigación Sant Pau (Cataluña)
- Investigación > IIS > i+12 - Instituto de Investigación Hospital 12 de Octubre (Madrid)
- Investigación > IIS > IDIBELL - Instituto de Investigación Biomédica de Bellvitge (Cataluña)
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