2024-03-29T15:50:00Zhttp://repisalud.isciii.es/oai/requestoai:repisalud.isciii.es:20.500.12105/112272024-01-24T20:58:33Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2102com_20.500.12105_2052col_20.500.12105_16986col_20.500.12105_16972col_20.500.12105_16962col_20.500.12105_16938col_20.500.12105_2103
Repisalud
author
Del Pino, María
author
Andrés, Amado
author
Ávila Bernabéu, Ana
author
de Juan-Rivera, Joaquín
author
Fernández, Elvira
author
de Dios García Díaz, Juan
author
Hernández, Domingo
author
Luño, José
author
Martínez Fernández, Isabel
author
Paniagua, José
author
Posada De la Paz, Manuel
author
Rodríguez-Pérez, José Carlos
author
Santamaría, Rafael
author
Torra, Roser
author
Torras Ambros, Joan
author
Vidau, Pedro
author
Torregrosa, Josep-Vicent
2020-10-27T18:58:05Z
2020-10-27T18:58:05Z
2018
Kidney Blood Press Res . 2018;43(2):406-421.
1420-4096
http://hdl.handle.net/20.500.12105/11227
29558749
10.1159/000488121
1423-0143
Kidney & blood pressure research
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.
eng
Fabry Nephropathy: An Evidence-Based Narrative Review.
journal article
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URL
https://repisalud.isciii.es/bitstream/20.500.12105/11227/1/FabryNephropathyAnEvidence_2018.pdf
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FabryNephropathyAnEvidence_2018.pdf.txt
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Erratum_FabryNephropathyEvidence-Based_2018.pdf.txt