α1-Antitrypsin Deficiency

Two hundred thousand Swedish infants were screened for α1-antitrypsin deficiency; 125 deficient infants, as well as 51 with intermediate levels of deficiency, were found. Twenty-two of the deficient infants developed liver disease; 14 of these 22 had conjugated hyperbilirubinemia. By age 2 years, three of these 14 children, all of whom had conjugated hyperbilirubinemia, had developed cirrhosis and the rest were well. Two children with α1-antitrypsin deficiency developed liver disease after the first year of life in association with an intercurrent illness. None of the infants with intermediate levels of deficiency developed liver disease. Eight of the children with deficiency had recurrent wheezing and one had recurrent pneumonia with cavitation. Comment: α1-Antitrypsin accounts for 90% of the protease inhibitory activity of serum.