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00925njm 22002777a 4500 dc 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 author 2018 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. Kidney Blood Press Res . 2018;43(2):406-421. 10.1159/000488121 1423-0143 1420-4096 Kidney & blood pressure research 29558749 http://hdl.handle.net/20.500.12105/11227 Fabry Nephropathy: An Evidence-Based Narrative Review