Abstract
A retrospective search for propositi to study familial alpha 1-antitrypsin (AAT) deficiency was initiated through an immunohistochemical study of pathological specimens from children with liver disease. A modification of the immunoperoxidase method of Sternberger et al (J. Histochem. Cytochem.18:315, 1970) was used to identify intrahepatic accumulation of AAT, followed by Pityping of the children and/or their parents, using isoelectric focusing, acid starch gel and crossed immunoelectrophoresis.
Ten patients with significant AAT accumulation have been Pityped thus far. Four children were PiZZ; four were PiMM. Both groups included children with portal cirrhosis, neonatal hepatitis and/or biliary atresia. Two children with liver lesions resembling tyrosinosis were typed as MZ and M (tentative). Malton An additional child (deceased) is presumed to have been AAT deficient on the basis of serum electrophoresis; his parents are unavailable for typing. The immunohistochemical identification of AAT in MM and non-M individuals suggests that AAT accumulates in damaged livers regardless of the Pi type. The identification of AAT in the liver cannot be considered proof of PiZZ genotype, but must be followed by typing. Supported in part by NlH grants CA 19834 and RR5624.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Punnett, H., Huff, D., Lischner, H. et al. 555 INTRAHEPATIC ALPHA 1-ANTITRYPSIN ACCUMULATION AND Pi TYPE; A CORRELATION STUDY. Pediatr Res 12 (Suppl 4), 456 (1978). https://doi.org/10.1203/00006450-197804001-00560
Issue Date:
DOI: https://doi.org/10.1203/00006450-197804001-00560