Alpha-1-antitrypsin (Pi) types in Down's syndrome

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Abstract
Alpha-1-antitrypsin (Pi) phenotypes were determined in 40 patients suffering from Down''s syndrome. Thirty-six of the patients had a normal M phenotype whereas 2 deficient phenotypes of the MS variety were observed. In addition, 2 M variants were noted. The significance of an M variant phenotype in some patients with Down''s syndrome is not completely understood and is currently under investigation. Since the majority of the patients had a normal .alpha.-1-antitrypsin phenotype, a deficiency in .alpha.-1-antitrypsin possibly does not play a role in the respiratory fragility of individuals with Down''s syndrome.