دورية أكاديمية
Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency
| العنوان: | Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency |
|---|---|
| المؤلفون: | Bebiana Conde, Filipa Costa, Joana Gomes, António Paulo Lopes, Maria Alexandra Mineiro, Orlando Rodrigues, Cristina Santos, Luísa Semedo, Maria Sucena, Catarina Guimarães |
| المصدر: | Acta Médica Portuguesa, Vol 35, Iss 13 (2022) |
| بيانات النشر: | Ordem dos Médicos, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | alpha 1-Antitrypsin, alpha 1-Antitrypsin Deficiency, Medicine, Medicine (General), R5-920 |
| الوصف: | Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining underdiagnosed. Several organizations and societies, including the Portuguese Society of Pulmonology have been elaborating guidelines and recommendations for the diagnosis and management of alpha 1-antitrypsin deficiency. Nevertheless, some important matters are yet to be included in those, mainly due to lack of robust scientific evidence, and continue to represent a point of discussion. This article reviews some important scientific publications and expresses the perspectives of a group of Portuguese experts regarding the management of alpha 1-antitrypsin deficiency, namely in terms of the pre and neonatal diagnosis, the impact of the COVID-19 pandemic, the validity of replacement therapy in lung transplant-receiving, and finally, alternative strategies of alpha 1-antitrypsin deficiency treatment to improve the patients’ quality of life. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Portuguese |
| تدمد: | 0870-399X 1646-0758 |
| Relation: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18497; https://doaj.org/toc/0870-399X; https://doaj.org/toc/1646-0758 |
| DOI: | 10.20344/amp.18497 |
| URL الوصول: | https://doaj.org/article/1895730aa22c46bda94e815b96d0e5c8 |
| رقم الأكسشن: | edsdoj.1895730aa22c46bda94e815b96d0e5c8 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 0870399X 16460758 |
|---|---|
| DOI: | 10.20344/amp.18497 |