Centro Hospitalar e Universitário de Coimbra (HUC); Alpha-1-antitrypsin deficiency study group coordinator.
Centro Hospital Lisboa Central.
Pulmonology. 2018 Dec;24 Suppl 1:1-21. doi: 10.1016/j.pulmoe.2018.09.004.
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.
α1-抗胰蛋白酶缺乏症（AATD）是一种由 SERPINA1 基因突变引起的常染色体显性遗传疾病。它是最常见的遗传疾病之一，但仍未得到充分诊断。尽管在国际上对这种疾病已经有了几个共识领域，但在葡萄牙，医院之间在临床实践和可用资源方面的异质性，给这组患者的诊断和治疗决策带来了困难。这就需要起草一份文件，表达对 AATD 的国家共识。为此，在葡萄牙肺病学会- AATD 研究小组内成立了一个该领域的专家小组，以制定目前的手稿。作者回顾了现有文献，并为来自不同医学领域的葡萄牙临床医生提供了诊断和管理 AATD 的一般指导和广泛建议。本文是题为“管理α1-抗胰蛋白酶缺乏症的葡萄牙共识文件”的增刊的一部分，该增刊由葡萄牙肺病学会赞助。
