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Chapter 25 - α1-Antitrypsin Deficiency

from Section IV - Metabolic Liver Disease

Published online by Cambridge University Press:  19 January 2021

By
David A. Rudnick  and
David H. Perlmutter
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Edited in association with
Jorge A. Bezerra ,
Cara L. Mack  and
Benjamin L. Shneider
Frederick J. Suchy
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Ronald J. Sokol
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
William F. Balistreri
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Jorge A. Bezerra
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Cara L. Mack
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Benjamin L. Shneider
Affiliation:
Texas Children’s Hospital, Houston
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Summary

Homozygous (PiZZ phenotype1) α1-antitrypsin (α1-AT) deficiency is a relatively common autosomal codominant genetic disorder, affecting 1 in 1,600–3,000 live births in most populations of Northern European ancestry [1, 2]. Although α1-AT deficiency liver disease develops in only a subset of PiZZ individuals, this condition represents the most common metabolic cause of liver disease and liver transplantation in children [3]. It can also cause chronic liver disease, hepatocellular carcinoma, and premature pulmonary emphysema in adults [3, 4].

Type
Chapter
Information
Liver Disease in Children , pp. 417 - 436
Publisher: Cambridge University Press
Print publication year: 2021

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To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

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