TY - JOUR T1 - Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype–phenotype expression JO - Nefrología T2 - AU - Paliouras,Christos AU - Aperis,Georgios AU - Lamprianou,Foteini AU - Ntetskas,Giorgos AU - Roufas,Konstantinos AU - Alivanis,Polichronis SN - 02116995 M3 - 10.1016/j.nefro.2015.08.001 DO - 10.1016/j.nefro.2015.08.001 UR - https://revistanefrologia.com/es-control-proteinuria-with-increased-doses-articulo-S0211699515001332 AB - 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. ER -