Sharp H L
Gastroenterology. 1976 Apr;70(4):611-21.
Extremely deficient levels of alpha-1-antitrypsin (ALPHA1AT) predispose such deficient individuals to the development of emphysema and cirrhosis. Protease inhibitor (Pi) typing has clarified that the inherited deficiency is codominant. A glycoprotein with antigenic characteristics of alpha1AT is found in the endoplasmic reticulum of the hepatocytes of individuals with PiZ phenotype. No therapy is available except liver transplantation. Although biochemical advances in defining the nature of alpha1AT deficiency are progressing, the pathogenesis of the liver disease remains an enigma.
α-1抗胰蛋白酶（ALPHA1AT）水平极低会使此类缺乏者易患肺气肿和肝硬化。蛋白酶抑制剂（Pi）分型已明确遗传性缺乏是共显性的。在PiZ表型个体的肝细胞内质网中发现了一种具有α1AT抗原特性的糖蛋白。除肝移植外，没有其他治疗方法。尽管在确定α1AT缺乏本质方面的生化进展不断，但肝病的发病机制仍然是个谜。
