Z 突变 α1- 抗胰蛋白酶缺乏症的研究进展#br#
Research progress of α1-antitrypsin deficiency of mutant Z#br#

α1- 抗胰蛋白酶 (α1-AT）属于丝氨酸蛋白酶抑制剂家族（Serpin），是人血浆中最重要的蛋白酶抑制剂，能抑制多种蛋白酶，从 而抑制组织的降解。经典的α1-AT 缺乏症由 Z 突变（Glu342Lys）引起，该突变导致蛋白在肝细胞内形成多聚体并聚积，引起肝细胞 损伤，同时由于血浆中该蛋白浓度的减少，破坏了蛋白酶与蛋白酶抑制剂之间的平衡，故可引起肺气肿和新生儿肝炎等疾病。该文主 要从 α1-AT 的分子结构、基因多态性，及其相关疾病的治疗等方面概述 Z 突变所致的 α1-AT 缺乏症的致病机制和相关预后的研究进展。
：α 1-Antitrypsin (α1-AT) belongs to serine protease inhibitor (Serpin) superfamily and is the main protease inhibitor in human circulation. It can inhibit many proteases to protect tissues from digradation. The mutant Z (Glu342Lys) of α1-AT predisposes to the early onset of emphysema due to decreased functional α1-AT in the lung and to neonatal hepatitis due to accumulation of α1-AT polymers in the endoplasmic reticulum of hepatocytes, which disrupts the balance between protease and protease inhibitors. This paper reviews recent research progress on the pathogenic mechanism and the prognosis of α1-antitrypsin deficiency