Department of Pulmonology, Hospital of the University of the Saarland, Kirrbergerstr. 1, Building 91, D-66421 Homburg/Saar, Germany.
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):629-33. doi: 10.1016/j.bpg.2010.08.006.
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder associated with the development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by hepatocytes and secreted into the blood. Agglomeration of the AAT-protein in hepatocytes can result in liver disease. Exposure to smoke is the major risk factor for the development of lung disease characterised as early chronic obstructive lung disease (COPD). Diagnosis is based on the analysis of the AAT genotype and phenotype. The measurement of the AAT serum level is useful as screening test. Liver biopsy is not necessary to establish the diagnosis. Therapy for AAT-related liver disease is supportive, a specific therapy is not available. AATD is a rare condition (1:5000-10000) and, as a consequence, data and information on diagnosis and treatment are not easily accessible. This chapter provides a comprehensive overview on AATD, covering basic biology, diagnostic and therapeutic approaches.
α-1-抗胰蛋白酶缺乏症（AATD）是一种罕见的遗传性疾病，与肝脏和肺部疾病的发展有关。AAT 是一种 52kD 的糖蛋白，主要由肝细胞产生并分泌到血液中。AAT 蛋白在肝细胞中的聚集可能导致肝脏疾病。吸烟是导致以早期慢性阻塞性肺疾病（COPD）为特征的肺部疾病的主要危险因素。诊断基于 AAT 基因型和表型的分析。AAT 血清水平的测量可用作筛选试验。肝活检对于确立诊断并非必需。AAT 相关性肝病的治疗是支持性的，目前尚无特异性治疗方法。AATD 是一种罕见疾病（1:5000-10000），因此，关于诊断和治疗的数据和信息不容易获得。本章全面概述了 AATD，涵盖了基础生物学、诊断和治疗方法。
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