α1-Antitrypsin Deficiency in Early Childhood

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Abstract
Among 200,000 infants screened for .alpha.1-antitrypsin (.alpha.1-AT) deficiency, 125 Pi Z, 48 Pi SZ, 1 Pi S- and 2 Pi Z- children were followed up prospectively. Eleven percent of the Pi Z infants had neonatal cholestasis, and at 2 yr-3 of them had cirrhosis. About 50% of the asymptomatic Pi Z and Pi Z- subjects occasionally had serum alanine aminotransferase (ALAT) levels above normal, and in 15% of them the levels were probably permanently increased during the 1st 2 yr of life. Two previously healthy Pi Z children had transient symptoms of liver disease at age 2 yr in connection with severe infections. The Pi SZ children had no significant clinical liver disease and only 2 had abnormal serum ALAT levels. Among Pi Z children up to 2 yr of age the following diseases were also encountered: 8 had recurrent bronchitis with wheezing, 2 had persistant cough (both had cirrhosis) 1 had severe pneumonia, 1 was mentally retarded 3 had urinary tract infections, 6 had pronounced eczema, 1 had allergic shock and 3 had congenital malformations. Among the Pi SZ children 1 had recurrent bronchitis, 1 had eczema and 1 had juvenile rheumatoid arthritis. Three children, 2 Pi Z and 1 Pi SZ, died. The Pi Z- and Pi S- subjects were healthy. A variety of significant symptoms were observed in about 30% of the Pi Z children compared with 6% of the Pi SZ children during the 1st 2 yr of life.