ALPHA1-ANTITRYPSIN DEFICIENCY AND LIVER-DISEASE IN CHILDREN - PHENOTYPES, MANIFESTATIONS, AND PROGNOSIS

  • 1 January 1976
    • journal article
    • research article
    • Vol. 57  (2) , 226-231
Abstract
Among 424 children with liver disease, 20 had .alpha.1-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 mo. 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 8 and hypoplasia of intrahepatic bile ducts was demonstrated in another 4. Routine screening revealed intermediate .alpha.1-antitrypsin deficiency in 16 other children with various types of liver disease. The phenotype in these patients was MZ, MS, or SZ. Periodic-acid Schiff-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.

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