Liver disease in children with alpha 1-antitrypsin deficiency without neonatal cholestasis.
Thirteen children with alpha 1-antitrypsin deficiency (8 PiZ and 5 PiSZ) were investigated at ages ranging from 4 to 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. The results indicate that 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.
D001647:Bile Acids and Salts / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000378:metabolism; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000378:metabolism*; D008111:Liver Function Tests; D008297:Male; D012306:Risk; D000637:Transaminases / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency
D001647:Bile Acids and Salts; D000637:Transaminases