Alpha-1-antitrypsin deficiency: fulminant course in early infancy.
A severe course of alpha-1-antitrypsin deficiency in two children with Pi ZZ genotype is demonstrated. Clinically both infants presented with signs indistinguishable from biliary atresia with acholic stools and a low I131-rose bengal excretion over 72 h. Rapid development of liver fibrosis documented by serial liver biopsies, indicated a bad prognosis. The infants died at the age of 6 and 15 months. The extent of fibrosis is estimated to be the most useful prognostic sign in prediction of the probable outcome in alpha-1-antitrypsin deficiency.
D001652:Bile Ducts / Q000002:abnormalities; D001707:Biopsy, Needle; D003937:Diagnosis, Differential; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000473:pathology; D008297:Male; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency