Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency

• Published in: Seminars in liver disease Vol. 43; no. 3; p. 258
• Main Authors: Ruiz, Mathias, Lacaille, Florence, Schrader, Christina, Pons, Monica, Socha, Piotr, Krag, Aleksander, Sturm, Ekkehard, Bouchecareilh, Marion, Strnad, Pavel
• Format: Journal Article
• Language: English
• Published: United States 01.08.2023
• Subjects: Adult; alpha 1-Antitrypsin Deficiency - complications; alpha 1-Antitrypsin Deficiency - genetics; alpha 1-Antitrypsin Deficiency - therapy; Child; Cholestasis - complications; Genotype; Humans; Infant, Newborn; Liver Cirrhosis - complications; Liver Cirrhosis - genetics
• ISSN: 1098-8971
• DOI: 10.1055/a-2122-7674

Alpha-1 antitrypsin deficiency (AATD) arises due to inherited variants in , the AAT gene that impairs the production or secretion of this hepatocellular protein and leads to a gain-of-function liver proteotoxicity. Homozygous Pi*Z pathogenic variant (Pi*ZZ genotype) is the leading cause of severe AA...