Hepatic involvement in hereditary alpha-1-antitrypsin deficiency

• Published in: Revue des maladies respiratoires Vol. 31; no. 4; p. 357
• Main Authors: Lachaux, A, Dumortier, J
• Format: Journal Article
• Language: French
• Published: France 01.04.2014
• Subjects: Adolescent; Adult; Age of Onset; Alleles; alpha 1-Antitrypsin - blood; alpha 1-Antitrypsin - genetics; alpha 1-Antitrypsin - therapeutic use; alpha 1-Antitrypsin Deficiency - complications; alpha 1-Antitrypsin Deficiency - diagnosis; alpha 1-Antitrypsin Deficiency - epidemiology; alpha 1-Antitrypsin Deficiency - genetics; alpha 1-Antitrypsin Deficiency - therapy; Carcinoma, Hepatocellular - etiology; Disease Progression; Enzyme Replacement Therapy; Genetic Predisposition to Disease; Genetic Therapy; Genotype; Glomerulonephritis, Membranoproliferative - etiology; Hepatocytes - transplantation; Humans; Infant, Newborn; Jaundice, Neonatal - etiology; Liver Cirrhosis - etiology; Liver Neoplasms - etiology; Phenotype; Polymorphism, Genetic; Pulmonary Emphysema - etiology; Cirrhosis; Cirrhose; SERPINA1; Carcinome hépatocellulaire; Neonatal cholestasis; Cholestase néonatale; Hepatocellular carcinoma; Déficit en alpha-1-antitrypsine; Alpha-1-antitrypsin deficiency
• ISSN: 1776-2588
• DOI: 10.1016/j.rmr.2013.10.651

Apha-1-antitrypsin deficiency is an autosomal recessive genetic disorder seen in all races. The molecular defect is a specific mutation of the SERPINA1 gene leading to synthesis of an abnormal protein (alpha-1-antitrypsin Z) that cannot be secreted and polymerizes in the endoplasmic reticulum of hep...