| Autor: |
Christos Paliouras, Georgios Aperis, Foteini Lamprianou, Giorgos Ntetskas, Konstantinos Roufas, Polichronis Alivanis |
| Jazyk: |
Spanish; Castilian |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Nefrología, Vol 35, Iss 6, Pp 578-581 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
0211-6995 |
| DOI: |
10.1016/j.nefro.2015.08.001 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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