Page of

α‎1-antitrypsin deficiency 

α‎1-antitrypsin deficiency
α‎1-antitrypsin deficiency
Paediatric Gastroenterology, Hepatology and Nutrition (Oxford Specialist Handbooks in Paediatrics) (1 ed.)

R. Mark Beattie

, Anil Dhawan

, and John W.L. Puntis


Clinical features 354

Management 355

Liver disease in other forms of α‎1-AT deficiency 355

α‎1-Antitrypsin (α‎1-AT) is a 55 kD glycoprotein produced predominantly by hepatocytes, alveolar macrophages and intestinal endothelial cells. It acts as a protease inhibitor during an acute-phase response. It can be electrophoretically differentiated into four main variants: PiM (normal), PiZ, PiS, and Pi Null (abnormal). There are >80 other rare, clinically irrelevant, variants. ...

Sign In

Copyright © 2022. All rights reserved.