Abstract

POLITEI, Juan et al. Fabry Disease: the importance of the, enzyme replacement therapy (TRE): treating quickly and efficiently. Rev. nefrol. dial. transpl. [online]. 2014, vol.34, n.2, pp.82-86. ISSN 2346-8548.

Fabry Disease is a lysosomal disorder due to the absence or deficiency of the Alpha galactosidase A enzyme that causes a pathological ac cumulation of glycosphingolipids mainly in the REVISIÓN 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.

Keywords : Fabry disease; Enzyme replacement therapy; Agalsidase Beta; Podocyte; Lysosome; Neuropathic pain.

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