Natural history of children with alpha 1-antitrypsin deficiency and neonatal cholestasis.
Ten children with alpha 1-antitrypsin deficiency, phenotype PiZ, and neonatal cholestasis were followed to the ages of 4-20 years. Standard liver function tests, urinary bile acid excretion and liver morphology were investigated within one week and the results were compared. Three patients had morphological signs of liver cirrhosis and one of these had clinical signs as well. Compared to healthy children of the same age urinary bile acid excretion was increased only in those with morphologically confirmed liver cirrhosis. Although most of the other patients had some minor histological changes in the liver biopsies, the normal urinary bile acid excretion was in accordance with their excellent general clinical state and is interpreted as a short-term favourable prognostic sign.
D000293:Adolescent; D001647:Bile Acids and Salts / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000150:complications / Q000378:metabolism*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000378:metabolism*; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000209:etiology / Q000652:urine; D008111:Liver Function Tests; D008297:Male; D019896:alpha 1-Antitrypsin Deficiency
D001647:Bile Acids and Salts