Fabry disease: the importance of the enzyme replacement therapy (TRE), treating quickly and efficiently

• Main Authors: Juan Manuel Politei, Andrea B. Schenone, Norberto Antongiovanni, Ana María Cusumano, Gustavo Cabrera, Marina Szlago
• Format: Article
• Language: Spanish
• Published: Asociación Regional de Diálisis y Trasplantes Renales de Capital Federal y Provincia de Buenos Aires 2014-06-01
• Series: Revista de Nefrología, Diálisis y Trasplante
• Subjects: enfermedad de Fabry; terapia reemplazo enzimático; Agalsidasa Beta; podocito; lisosoma; dolor neuropático
• Online Access: http://www.revistarenal.org.ar/index.php/rndt/article/view/108

Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological accumulation of glycosphingolipids mainly in the endothelial cells, vascular smooth muscle cells and podocytes among others. Enzyme replacement therapy is the only option for a specific treatment at present. Increasing knowledge of the physiopathological mechanisms has changed the management of the disease and above all, when treatment should begin. At present, beginning treatment at an early age seems to be a way of preventing and in some cases reverting some of the signs and symptoms of Fabry disease.