Abstract
Three sibs (J.C.♀, E.C.♀, G.C.♂) were studied. All had absent serum alpha1 globulin peaks. Results of anti-protease and immunochemical studies.
J.C. and G.C. had neonatal obstructive jaundice with hepatosplenomegaly. J.C. developed progressive liver failure and portal hypertension, recurrent plumonary infections from the age of 3 mos., emphysema at 10 yrs. and died at 11 yrs. Liver biopsy at 3 mos. and autopsy revealed a perilobular type of cirrhosis with progressive reduction of interlobular bile ducts and typical panacinar emphysema. G.C.'s liver biopsy (3 mos.) was similar to J.C.'s. His liver disease improved. Presently, at 12 yrs., liver function tests are normal but his liver is hard. From 7 years of age he had had a nocturnal cough and episodes of “wheezy bronchitis”. The maximum mid-expiratory flow rate is 1.71 1/sec. (58% of normal), airway resistance 7.82 cm. H2O/l/sec. (normal 3.51). E.C. at 14 yrs. of age is clinically normal with normal liver and lung function. This is the first report of both liver and lung involvement with alpha1 AT deficiency.
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Glasgow, J., Hercz, A., Levison, H. et al. Alpha1 antitrypsin (AT) deficiency with both cirrhosis and chronic obstructive lung disease in two sibs. Pediatr Res 5, 427 (1971). https://doi.org/10.1203/00006450-197108000-00234
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DOI: https://doi.org/10.1203/00006450-197108000-00234