Fabry Nephropathy: An Evidence-Based Narrative Review
Por:
del Pino, MD, Andres, A, Bernabeu, AA, de Juan-Rivera, J, Fernandez, E, Diaz, JDG, Hernandez, D, Luno, J, Fernandez, IM, Paniagua, J, de la Pazk, MP, Rodriguez-Perez, JC, Santamaria, R, Torra, R, Ambros, JT, Vidau, P, Torregrosa, JV
Publicada:
1 ene 2018
Resumen:
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.
Filiaciones:
del Pino, MD:
Hosp Torrecardenas, Nephrol Serv, C Emilio Ferrera 3,2-2, Almeria 04003, Spain
Andres, A:
Univ Complutense Madrid, Inst Invest Hosp Octubre 12, Div Nephrol, Madrid, Spain
Bernabeu, AA:
Dr Peset Univ Hosp, Nephrol Dept, Valencia, Spain
de Juan-Rivera, J:
Elda Gen Univ Hosp, Nephrol Dept, Elda, Spain
Fernandez, E:
Univ Lleida, Hosp Univ Arnau Vilanova Lleida, Unit Detect & Treatment Atherothrombot Dis UDETMA, Nephrol Dept,Inst Recerca Biomed Lleida IRBLleida, Lleida, Catalonia, Spain
Diaz, JDG:
Univ Hosp Principe Asturias Alcala Henares, Dept Internal Med, Clin Genet Unit, Madrid, Spain
Hernandez, D:
Carlos Haya Reg Univ Hosp, Nephrol Dept, Malaga, Spain
Univ Malaga, IBIMA, RedInRen RD16 0009 0006, Malaga, Spain
Luno, J:
Hosp Gen Univ Gregorio Maranon, Nephrol Serv, Madrid, Spain
Fernandez, IM:
Hosp Galdakao Usanzolo, Nephrol Serv, Bizcaia, Spain
Paniagua, J:
Hosp El Bierzo, Nephrol Serv, Ponferrada, Leon, Spain
de la Pazk, MP:
Inst Hlth Carlos III, Inst Rare Dis Res, SpainRDR, Madrid, Spain
Inst Hlth Carlos III, CIBERER, Madrid, Spain
Rodriguez-Perez, JC:
Univ Las Palmas Gran Canaria Las Palmas, Univ Hosp Gran Canaria Dr Negrin, Las Palmas Gran Canaria, Spain
Santamaria, R:
Reina Sofia Univ Hosp, Maimonides Inst Res Biomed Cordoba, Nephrol Dept, Cordoba, Spain
Univ Cordoba, Red Invest Renal RedinRen, Cordoba, Spain
Torra, R:
Univ Autonoma Barcelona, Inst Invest Carlos III, Inst Invest Biomed St Pau IIB Sant Pau,REDinREN, Inherited Kidney Disorders,Nephrol Dept,Fundacio, Barcelona, Spain
Ambros, JT:
Hosp Bellvitge Princeps Espanya, IDIBELL, Expt Nephrol Lab, Nephrol Serv, Barcelona, Catalonia, Spain
Vidau, P:
Hosp Univ Cent Asturias, Nephrol Serv, Oviedo, Spain
Torregrosa, JV:
Univ Barcelona, Hosp Clin, RedInRen, Nephrol & Renal Transplant Dept, Barcelona, Spain
Gold, Green Published
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