LIVER DISEASE IN CHILDREN WITH ALPHA1‐ANTITRYPSIN DEFICIENCY WITHOUT NEONATAL CHOLESTASIS

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Abstract
Thirteen children with .alpha.1-antitrypsin deficiency (8 PiZ and 5 PiSZ) were investigated at ages ranging from 4-6. None had had neonatal cholestasis. Nine, mainly the PiZ individuals, had increased serum concentration of transaminases. Liver biopsy was performed in 7 patients with increased serum levels of transaminases. One of these patients had cirrhosis and 4 had moderate to severe fibrosis. .alpha.1-Antitrypsin deficient individuals, also without neonatal cholestasis syndrome run a high risk of developing serious liver disease, already in childhood. The cirrhotic patient was the only one who had increased excretion of bile acids in urine.