Alimentary Pharmacology & Therapeutics
Fecha de publicación: 15 February 2018
Autores:R. G. Edgar, P. R. Ellis, D. Kantas, P. N. Newsome, A. M. Turner
Background: Alpha‐1 antitrypsin deficiency (AATD) is estimated to affect three million people worldwide. It causes liver disease in a proportion of carriers of the PiS and PiZ allele due to the formation and retention of polymers within the endoplasmic reticulum of hepatocytes. The reason for this selective penetrance is not known. Although clinical trials are underway, liver transplantation is the only effective treatment for liver disease due to AATD.