Systematic review: the natural history of alpha‐1 antitrypsin deficiency, and associated liver disease

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Systematic review: the natural history of alpha‐1 antitrypsin deficiency, and associated liver disease

Alimentary Pharmacology & Therapeutics

Fecha de publicación: 15 February 2018

DOI: https://doi.org/10.1111/apt.14537

Autores: S. A. Townsend, 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.

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