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• W2186768694 abstract "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. La enfermedad de Fabry es un trastorno hereditario raro ligado al cromosoma X, que se caracteriza por un almacenamiento lisosómico de glucoesfingolípidos causado por una deficiencia parcial o completa de la enzima lisosómica α-galactosidasa A (a-Gal A). La mutación sin sentido pN215S suele provocar una forma más leve de la enfermedad, con afectación cardíaca aislada. Se describe un caso de enfermedad de Fabry en un paciente varón con la mutación pN215S y enfermedad generalizada. El paciente presentó una recidiva de la proteinuria que respondió al aumento de dosis de la enzima recombinante administrada. Debe considerarse la posible conveniencia de una individualización de la terapia sustitutiva enzimática en casos seleccionados que presenten deterioro clínico." @default.
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• W2186768694 date "2015-11-01" @default.
• W2186768694 modified "2023-09-27" @default.
• W2186768694 title "Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype–phenotype expression" @default.
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• W2186768694 doi "https://doi.org/10.1016/j.nefro.2015.08.001" @default.
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