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- Title
Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.
- Authors
Paliouras, Christos; Aperis, Georgios; Lamprianou, Foteini; Ntetskas, Giorgos; Roufas, Konstantinos; Alivanis, Polichronis
- 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.
- Subjects
ANGIOKERATOMA corporis diffusum; PROTEINURIA; GALACTOSIDASES; LYSOSOMAL storage diseases; LYSOSOMES
- Publication
Nefrologia, 2015, Vol 35, Issue 6, p578
- ISSN
0211-6995
- Publication type
Article
- DOI
10.1016/j.nefro.2015.08.001