Fabry Nephropathy: An Evidence-Based Narrative Review
Por:
Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, Hernández D, Luño J, Fernández IM, Paniagua J, Posada de la Paz M, Rodríguez-Pérez JC, Santamaría R, Torra R, Ambros JT, Vidau P and 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 M:
Nephrology Service, Hospital Torrecardenas, Almeria, Spain
Andrés A:
Division of Nephrology, Instituto de Investigación Hospital 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain
:
Nephrology Department, Dr Peset University Hospital, Valencia, Spain
:
Nephrology Department, Elda General University Hospital, Elda, Spain
Fernández E:
Unit for the Detection and Treatment of Atherothrombotic Diseases (UDETMA), Nephrology Department, Hospital Universitari Arnau de Vilanova de Lleida, Institut de Recerca Biomèdica de Lleida (IRBLleida), Universitat de Lleida, Lleida, Spain
de Dios García Díaz J:
Clinical Genetics Unit, Department of Internal Medicine University Hospital Príncipe de Asturias Alcalá de Henares, Madrid, Spain
Hernández D:
Nephrology Department, Carlos Haya Regional University Hospital and University of Málaga, IBIMA, REDinREN (RD16/0009/0006), Málaga, Spain
Luño J:
Nephrology Service, Hospital General Universitario Gregorio Marañón, Madrid, Spain
Fernández IM:
Nephrology Service, Hospital Galdakao-Usanzolo, Bizcaia, Spain
Paniagua J:
Nephrology Service, Hospital El Bierzo, Ponferrada, Spain
Posada de la Paz M:
Institute of Rare Diseases Research, SpainRDR and CIBERER, Institute of Health Carlos III, Madrid, Spain
Rodríguez-Pérez JC:
University Hospital of Gran Canaria Dr. Negrin, Universidad de Las Palmas de Gran Canaria (Las Palmas), Las Palmas, Spain
Santamaría R:
Nephrology Department, Reina Sofia University Hospital, Maimonides Institute for Research in Biomedicine of Cordoba and University of Cordoba, Red de Investigación Renal (RedinRen), Cordoba, Spain
Torra R:
Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Barcelona, Spain
Ambros JT:
Nephrology Service, Experimental Nephrology Laboratory, Hospital de Bellvitge, IDIBELL, Barcelona, Spain
Vidau P:
Nephrology Service, Hospital Universitario Central de Asturias, Oviedo, Spain
Torregrosa JV:
Nephrology and Renal Transplant Department, Hospital Clinic, University of Barcelona, RedInRen, Barcelona, Spain
Green Published, gold
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