Article
Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency.
Seminars in liver disease - 1 Aug 2023
Ruiz Mathias, Lacaille Florence, Schrader Christina, Pons Monica, Socha Piotr, Krag Aleksander, Sturm Ekkehard, Bouchecareilh Marion, Strnad Pavel
Abstract excerpt
Alpha-1 antitrypsin deficiency (AATD) arises due to inherited variants in SERPINA1, 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 AATD. It manifests in 2 to 10% of carriers as neonatal cholestasis and 20 to 35% of adults as significant...
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