The α1-antitrypsin gene and its deficiency states

摘要: alpha 1-antitrypsin, a 52 kDa antiprotease, provides the major defense to lower respiratory tract against ravages of neutrophil elastase, powerful serine protease. A variety mutations in coding exons 1-antitrypsin gene result 'alpha deficiency', leading emphysema at an early age. subset cause liver disease and rare mutation is associated with bleeding diathesis. Preventive treatment for deficiency available form intermittent infusions strategies have been developed reverse state therapy.