PEDIATRICS Vol. 57 No. 2 February 1976, pp. 226-231
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Alpha1-Antitrypsin Deficiency and Liver Disease in Children: Phenotypes, Manifestations, and Prognosis

Michel Odièvre M.D.1, Jean-Pierre Martin M.D.1, Michèle Hadchouel 1, Daniel Alagille M.D.1, and M. Michael Thaler M.D.1

1 Unitée de recherche d'hépatologie infantile I.N.S.E.R.M. U 56, and Groupe de recherche sur la génétique des protéines humaines I.N.S.E.R.M. U 78, Centre Départemental de Transfusion Sanguine et de Génétique Humaine

Among 424 children with liver disease, 20 had agr1-antitrypsin deficiency associated with protease inhibitor ZZ phenotype. The disorder manifested itself as cholestasis in early infancy in 19 children. Jaundice and pruritus cleared in 16 of these by 7 months of age, but hepatomegaly and laboratory evidence of mild hepatic dysfunction persisted in all. Biliary cirrhosis and portal hypertension eventually developed or was suspected in eight, and hypoplasia of intrahepatic bile ducts was demonstrated in another four. Routine screening revealed intermediate agr1-antitrypsin deficiency in 16 other children with various types of liver disease. The phenotype in these patients was MZ, MS, or SZ. PAS-positive granules were present in liver of all patients with the ZZ phenotype and in none with other phenotypes. The findings indicate that manifestations and prognosis of this inherited liver disease are extremely variable.

Submitted on October 10, 1974
Accepted on July 2, 1975




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