α1-Antitrypsin Deficiency — A Defect of Secretion

The association of a deficiency of serum α1-antitrypsin with some cases of chronic obstructive pulmonary disease, neonatal hepatitis, and juvenile and adult cirrhosis has been firmly established. Recently, an unusually high association with hepatocellular carcinoma has also been noted.1 alpha1-antitrypsin deficiency appears to be inherited as an autosomal recessive disorder; the normal circulatory protein is the product of at least 23 different codominant alleles. The characteristics of the defective α1-antitrypsin and the relation of α1-antitrypsin deficiency to the pathogenesis of liver and lung disease are not, as yet, understood.Although the precise physiologic functions . . .