Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Dublin, Ireland; Department of Medicine, Beaumont Hospital, Dublin, Ireland.
Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Dublin, Ireland; Alpha-1 Foundation Ireland, Royal College of Surgeons in Ireland, Dublin, Ireland.
Lancet Respir Med. 2019 Dec;7(12):1059-1067. doi: 10.1016/S2213-2600(19)30141-9. Epub 2019 Jul 16.
α1-antitrypsin deficiency (AATD) remains the only readily identified genetic cause of chronic obstructive pulmonary disease (COPD). Furthermore, there is growing evidence that even a moderate deficiency increases the risk of lung disease among smokers. Despite these facts, the uptake of testing for AATD in at-risk populations remains low for many reasons, and a lack of clarity among clinicians regarding the most appropriate diagnostic techniques presents a major deterrent. This Personal View addresses the benefits of diagnosis, the technical basis of the available diagnostic methods, and possible clinical confounders for each test. We include a series of unusual cases encountered at our National Centre of Expertise to provide context. The topics covered should equip clinicians with the core knowledge required to confidently assess patients for AATD.
α1-抗胰蛋白酶缺乏症（AATD）仍然是唯一一种易于识别的慢性阻塞性肺疾病（COPD）的遗传病因。此外，越来越多的证据表明，即使是适度的缺乏也会增加吸烟者患肺病的风险。尽管事实如此，但由于多种原因，在高危人群中进行 AATD 检测的比例仍然很低，而且临床医生对最合适的诊断技术缺乏明确性是一个主要的障碍。本个人观点讨论了诊断的益处、现有诊断方法的技术基础，以及每项测试可能存在的临床混杂因素。我们纳入了在我们的国家专长中心遇到的一系列不常见病例，以提供背景。涵盖的主题应该使临床医生具备评估 AATD 患者所需的核心知识。
