Cirrhosis and heterozygous alpha1-antitrypsin deficiency in a 4-year-old girl.
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.
D000483:Alleles; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D008103:Liver Cirrhosis / Q000097:blood / Q000235:genetics* / Q000473:pathology; D019896:alpha 1-Antitrypsin Deficiency