RT Journal Article
T1 Fabry Nephropathy: An Evidence-Based Narrative Review.
A1 Del Pino, Maria
A1 Andres, Amado
A1 Bernabeu, Ana Avila
A1 de Juan-Rivera, Joaquin
A1 Fernandez, Elvira
A1 de Dios Garcia Diaz, Juan
A1 Hernandez, Domingo
A1 Luño, Jose
A1 Fernandez, Isabel Martinez
A1 Paniagua, Jose
A1 Posada de la Paz, Manuel
A1 Rodriguez-Perez, Jose Carlos
A1 Santamaria, Rafael
A1 Torra, Roser
A1 Ambros, Joan Torras
A1 Vidau, Pedro
A1 Torregrosa, Josep-Vicent
K1 Enzyme replacement therapy
K1 Fabry disease
K1 Inherited disorder
K1 Nephropathy
K1 Proteinuria
AB 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.
PB S. Karger
YR 2018
FD 2018-03-09
LK http://hdl.handle.net/10668/12256
UL http://hdl.handle.net/10668/12256
LA en
NO Del Pino M, Andrés A, Bernabéu AÁ, de Juan-Rivera J, Fernández E, de Dios García Díaz J, et al. Fabry Nephropathy: An Evidence-Based Narrative Review. Kidney Blood Press Res. 2018;43(2):406-421
DS RISalud
RD Apr 20, 2025