دورية أكاديمية
The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
| العنوان: | The Challenge of Diagnosis and Indication for Treatment in Fabry Disease |
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| المؤلفون: | Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD |
| المصدر: | Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017) |
| بيانات النشر: | SciELO, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Medicine (General) |
| مصطلحات موضوعية: | Medicine (General), R5-920 |
| الوصف: | Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic activity determination fails to detect the disease in about two-thirds of the patients, and only the identification of a pathogenic mutation in the GLA gene allows for a definite diagnosis. The hurdle to be overcome in this field is to determine whether a mutation that has never been described determines a “classic” or “nonclassic” phenotype, because this will have an impact on the decision-making for treatment initiation. Besides the enzymatic determination and GLA gene mutation determination, researchers are still searching for a good biomarker, and it seems that plasma lyso-Gb3 is a useful tool that correlates to the degree of substrate storage in organs. The ideal time for treatment initiation for children and nonclassic phenotype remains unclear. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2326-4594 23264098 |
| العلاقة: | https://doaj.org/toc/2326-4594Test |
| DOI: | 10.1177/2326409816685735 |
| الوصول الحر: | https://doaj.org/article/7fb1bf189e654956948a707ace4f87c7Test |
| رقم الانضمام: | edsdoj.7fb1bf189e654956948a707ace4f87c7 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 23264594 23264098 |
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| DOI: | 10.1177/2326409816685735 |