Abstract

PALIOURAS, Christos  and  POLICHRONIS ALIVANIS et al. Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression. Nefrología (Madr.) [online]. 2015, vol.35, n.6, pp.578-581. ISSN 1989-2284.  https://dx.doi.org/10.1016/j.nefro.2015.08.001.

Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipids, caused by the partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). The missense mutation pN215S usually causes a milder form of the disease with isolated cardiac involvement. We report a case of a male Fabry patient with the pN215S mutation and a generalized disease. He suffered a relapse in proteinuria which responded to increased doses of the administered recombinant enzyme. Individualization of enzyme replacement therapy must be considered in selected cases characterized by clinical deterioration.

Keywords : Fabry disease; Enzyme replacement therapy; Mutation pN215S; Proteinuria.

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