AI Article Synopsis
- Fabry disease is a rare genetic disorder linked to the X chromosome, caused by a lack of the enzyme alpha-galactosidase A, leading to the buildup of certain fats in the body.
- The pN215S mutation typically results in a milder form of the disease, primarily affecting the heart, but it may also cause generalized symptoms in some patients.
- A case study highlights a male patient with the pN215S mutation who experienced a worsening of kidney function (proteinuria) that improved with higher doses of enzyme replacement therapy, emphasizing the need for personalized treatment strategies.
Article 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.
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| http://dx.doi.org/10.1016/j.nefro.2015.08.001 | DOI Listing |
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