Abstract:Alpha1-antitrypsin (AAT) deficiency (AATD) arises due to inherited variants in SERPINA1, the AAT gene that impair the production or secretion of this hepatocellular protein and lead 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 2-10% of carriers as neonatal cholestasis and 20-35% of adults as significant liver fibrosis. Both children and adults may develop an end-stage liver disease requiring liver transplant… Show more
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