June 1976

α1-Antitrypsin Deficiency and Liver Disease in Children

Author Affiliations

From the departments of pediatrics (Drs Burke and Kiesel) and pathology (Dr Blair), University of Kentucky College of Medicine, Lexington. Dr Blair is now with the Department of Pathology, Cardinal Glennon Memorial Hospital for Children, St Louis.

Am J Dis Child. 1976;130(6):621-629. doi:10.1001/archpedi.1976.02120070047010

• This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum α1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that α1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis. In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe α1-antitrypsin deficiency is well illustrated by these two infants.

(Am J Dis Child 130:621-629, 1976)