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November 1979

Alpha1-antitrypsin Deficiency and Severe Infantile Liver Disease

Author Affiliations

Division of Gastroenterology Department of Pediatrics University of California School of Medicine San Francisco, CA 94142

Am J Dis Child. 1979;133(11):1195-1196. doi:10.1001/archpedi.1979.02130110103023

Liver disease in infants with alpha1-antitrypsin deficiency was first reported by Freier et al in 1968.1 This type of infantile liver disease has been observed almost exclusively in association with the ZZ phenotype for the protease inhibitor system.2 Alpha1-antitrypsin deficiency with liver disease has also been described in heterozygous adults with phenotype SZ, but has been rarely implicated as a cause of neonatal hepatitis and subsequent chronic liver disease in childhood.3.4 In addition, the characteristic hepatocellular PAS-positive granules observed in the liver biopsy specimens of pediatric patients with ZZ phenotype have been infrequently observed in other phenotypes.5 We are reporting a case of alpha1-antitrypsin deficiency in an infant with SZ phenotype associated with severe cholestatic liver disease and parenchymal deposition of PAS- positive material.

Report of a Case.—A male infant weighing 1,600 g was delivered by cesarean section at 31 to

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