دورية أكاديمية
Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin
| العنوان: | Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin |
|---|---|
| المؤلفون: | Graziani, Francesca, Ruggio, Aureliano, Iaconelli, Antonio, Verrecchia, Elena, Morrone, Amelia, Antuzzi, Daniela, Crea, Filippo, Manna, Raffaele |
| بيانات النشر: | SMC media |
| سنة النشر: | 2017 |
| المجموعة: | CNR Solar (Scientific Open-access Literature Archive and Repository - Consiglio Nazionale delle Ricerche / National Research Council) |
| مصطلحات موضوعية: | 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| الوصف: | Anderson-Fabry’s disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipids and subsequent cellular dysfunction, inflammation and fibrosis. Fever is a frequently misinterpreted symptom in the early stages of the disease, leading to diagnostic delay. We present the case of a 35-year-old man admitted to our Periodic Fever Research Centre for long-lasting recurrent episodes of fever of unknown origin. After extensive assessment, we diagnosed AFD associated with a novel GLA mutation. We started enzyme replacement therapy with clinical benefit and complete remission of fever. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | text |
| اللغة: | English |
| العلاقة: | http://eprints.bice.rm.cnr.it/16749/1/645-3873-1-PB.pdfTest; Graziani, Francesca and Ruggio, Aureliano and Iaconelli, Antonio and Verrecchia, Elena and Morrone, Amelia and Antuzzi, Daniela and Crea, Filippo and Manna, Raffaele (2017) Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin. European Journal of Case Reports in Internal Medicine, 4 (7). ISSN 2284-2594 |
| الإتاحة: | http://eprints.bice.rm.cnr.it/16749Test/ http://eprints.bice.rm.cnr.it/16749/1/645-3873-1-PB.pdfTest http://www.ejcrim.com/index.php/EJCRIM/article/view/645Test |
| رقم الانضمام: | edsbas.53F0371C |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |