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.