title: alpha1-Antitrypsin deficiency and liver disease in children.
abstract: This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum alpha1-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 alpha1-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 alpha1-antitrypsin deficiency is well illustrated by these two infants.
mesh_terms: D000483:Alleles; D002675:Child, Preschool; D005260:Female; D006505:Hepatitis / Q000201:enzymology; D006529:Hepatomegaly / Q000201:enzymology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000201:enzymology; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000201:enzymology; D008107:Liver Diseases / Q000201:enzymology* / Q000235:genetics; D008297:Male; D010641:Phenotype; D011379:Prognosis; D013163:Splenomegaly / Q000201:enzymology; D019896:alpha 1-Antitrypsin Deficiency