| Autor: |
Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi, Filippo Crea, Raffaele Manna |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
European Journal of Case Reports in Internal Medicine, Vol 4, Iss 7 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
2284-2594 |
| DOI: |
10.12890/2017_000645 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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