IQVIA艾昆纬：美国成人和儿童AATD患者肝脏相关临床事件的回顾性数据库分析（英文版）

Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal codominant genetic disease, primarily affecting the lungs and/or liver,1 occurring in ~1 in 3000–5000 people in the USA.1–3 The disorder is characterized by low levels of serum alpha-1 antitrypsin (AAT) leading to lung disease, and accumulation of misfolded AAT in hepatocytes, which can result in liver disease.1 The most severe AATD phenotypes are associated with the protease inhibitor (Pi)*ZZ genotype, caused by a single homozygous subst