European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency
European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency
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DOI：
10.1183/13993003.00610-2017
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发表时间：
2017-11-01
影响因子：
24.3
通讯作者：
Stockley, Robert A.
中科院分区：
文献类型：
--
作者：
Miravitlles, Marc;Dirksen, Asger;Stockley, Robert A.
α(1)-抗胰蛋白酶缺乏症（AATD）是成人中最常见的遗传性疾病。它与发生肺气肿和肝脏疾病的风险增加有关。AATD患者的肺气肿与吸烟密切相关，但即使是一部分从不吸烟者也会发展为进行性肺病。很大一部分受影响的个人仍未得到诊断，因此无法获得适当的护理和治疗。2003年，美国胸科学会和欧洲呼吸学会发表了关于AATD的最新国际声明。从那时起，新的、更准确的、更便宜的基因诊断方法不断发展。此外，新的结果参数已被开发并验证用于临床试验，一系列新的观察性和随机临床试验为增强治疗的有效性和安全性提供了更多证据，增强治疗是与AATD相关的肺部疾病的唯一特异性治疗方法。由于AATD是一种罕见疾病，因此组织国家和国际登记并前瞻性地收集有关该疾病自然史的信息至关重要。AATD患者的管理必须由国家或区域专家中心监督，并应解决整个欧洲在获得治疗方面的不平等问题。
alpha(1)-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease. The pulmonary emphysema in AATD is strongly linked to smoking, but even a proportion of never-smokers develop progressive lung disease. A large proportion of individuals affected remain undiagnosed and therefore without access to appropriate care and treatment.The most recent international statement on AATD was published by the American Thoracic Society and the European Respiratory Society in 2003. Since then there has been a continuous development of novel, more accurate and less expensive genetic diagnostic methods. Furthermore, new outcome parameters have been developed and validated for use in clinical trials and a new series of observational and randomised clinical trials have provided more evidence concerning the efficacy and safety of augmentation therapy, the only specific treatment available for the pulmonary disease associated with AATD.As AATD is a rare disease, it is crucial to organise national and international registries and collect information prospectively about the natural history of the disease. Management of AATD patients must be supervised by national or regional expert centres and inequalities in access to therapies across Europe should be addressed.