Abstract: 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.

Key words:  &alpha, 1-antitrypsin, α1-antitrypsin deficiency, mutant Z, polymer, emphysema, neonatal hepatitis