control of proteinuria with increased doses of agalsidase alfa in a patient with fabry disease with atypical genotype–phenotype expression
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ID: 176072
2015
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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.
| Reference Key |
paliouras2015nefrologacontrol
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|---|---|
| Authors | ;Christos Paliouras;Georgios Aperis;Foteini Lamprianou;Giorgos Ntetskas;Konstantinos Roufas;Polichronis Alivanis |
| Journal | demiryolu mühendisliği |
| Year | 2015 |
| DOI |
10.1016/j.nefroe.2015.09.009
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| URL | |
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