The New England journal of medicine
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Alpha-1-antitrypsin deficiency associated with chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson. In 1969, Sharp described the first cases of alpha-1-antitrypsin-deficiency disease in children with cirrhosis. Since then, this inborn error has been recognized as one of the more common factors in cirrhosis of infancy and childhood, including “neonatal hepatitis.” Alpha-1-antitrypsin is a glycoprotein that accounts for a major portion of the alpha-1 globulin fraction of the serum. ⋯ Thus, the metabolic basis of the disease was corrected for as long as the patients survived the transplantation procedure. Three of the patients are still alive after 13, 21, and 36 months. The others died between 12 days and 28 months after transplantation.