Alpha 1-antitrypsin deficiency associated with PZ and MP phenotypes : Clinical and laboratory correlations

Abstract

In a large kindred we have identified two siblings with the hitherto unreported PZ phenotype and eight other subjects with the MP phenotype. In subjects with the MP phenotype serum alpha 1-antitrypsin levels are near the lower limits of normal. In contrast, subjects with the PZ phenotype have severely depressed alpha 1-antitrypsin levels. One subject with the PZ phenotype at age 34 already shows evidence of obstructive lung disease. We found no convincing evidence of obstructive lung disease in family members with the MP phenotype. After purification of alpha 1-antitrypsin from the serum, isoelectric focusing and acrylamide gel electrophoresis can be used to distinguish normal protein from the products of the Pi P and Pi Z alleles. Subjects with the PZ phenotype have more Pi P than Pi Z product.