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The article by Burke and associates in this issue (see page 619) presents a very complete view of the spectrum of liver disease associated with α1-antitrypsin deficiency. The recognition of the relationship between the deficiency and the numerous forms of liver disease in infancy and childhood may explain some of the puzzling cases of the past, such as familial neonatal hepatitis, familial cirrhosis, familial atresia or hypoplasia of extra- or intrahepatic biliary ducts, and familial intrahepatic cholestasis. Unfortunately, most of these children died during infancy before the deficiency state had been reported. Serum or frozen specimens of liver from these patients rarely are available to permit a retrospective diagnosis of α1-antitrypsin deficiency, although the diagnosis could be inferred if the parents of such infants were tested and typed. Inasmuch as there is no treatment available at present other than liver transplant, which can hardly be considered
GELLIS SS. α1-Antitrypsin Deficiency. Am J Dis Child. 1976;130(6):592. doi:10.1001/archpedi.1976.02120070018003