TY - T1的现代化发现病例为α<子>1-antitrypsin deficiency by DNA sequencing of COPD patients JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.02628-2020 VL - 56 IS - 4 SP - 2002628 AU - Quinn, Mark AU - Turner, Alice M. Y1 - 2020/10/01 UR - //www.qdcxjkg.com/content/56/4/2002628.abstract N2 - Alpha-1-antitrypsin deficiency (AATD) is a hereditary metabolic disorder caused by mutations in the SERPINA1 gene that result in a reduction in the serum concentration of the protein alpha-1-antitrypsin (AAT), and a predisposition to COPD [1]. AAT functions as an inhibitor of neutrophil elastase (and other proteases) and is essential in maintaining a balance of protease and antiprotease activity in the lungs [2]. Imbalance causes an escalating cycle of inflammation and degradation of lung tissue that, over time, leads to COPD [3].Commenting on the use of DNA sequencing in helping to reduce the reported under-diagnosing of alpha-1-antitrypsin deficiency https://bit.ly/2ZPZbjx ER -