Cirrhosis and heterozygous alpha1-antitrypsin deficiency in a 4-year-old girl

Abstract

A 4-year-old girl with hepatic cirrhosis was found to have alpha1-antitrypsin deficiency. The method of FAGERHOL detected that she is a heterozygous carrier of the Pi SZ type. Investigations with the light and the electron microscope and immunofluorescence tests confirmed the diagnosis. The values of alpha1-antitrypsin and trypsin inhibitory capacity gave intermediate values. The fact that in the patient, the Z allele was combined with an S allele may have contributed to the severity of the illness.