Abstract
Hereditary deficiency of serum alpha1-antitrypsin and anti-clastase is associated with clinical familial emphysema with onset usually in the third or fourth decade. In other families alpha1-antitrypsin deficiency has been accompanied by cirrhosis in infancy or childhood, without clinical pulmonary disease. A 13-year-old girl has recently been studied, who has had recurrent pulmonary infections and progressive dyspnea since age 18 months. Chest x-rays show bullous emphysema and pulmonary function tests reveal severe airway obstructive disease with a low diffusing capacity. Lung biopsy done 5 years ago show emphysema and smooth muscle hypertrophy of the small bronchioles. Immunoglobulins, sweat electrolytes and liver function studies have been normal. Biochemical and electroimmunodiffusion studies of serum reveal a deficient level of alpha1-antitrypsin and biochemical studies show a deficiency of inhibition of elastase. Family studies indicate that the deficiency is inherited in an autosomal recessive manner. The emphysema associated with hereditary alpha1-antitrypsin deficiency may become symptomatic in early childhood and should be considered in the diagnosis of obstructive pulmonary disease in infants and children.
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Talamo, R., Levison, H., Lynch, M. et al. Clinical Emphysema with Hereditary Alpha1-anti-trypsin and Antielastase Deficiency in Childhood. Pediatr Res 4, 477–478 (1970). https://doi.org/10.1203/00006450-197009000-00171
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DOI: https://doi.org/10.1203/00006450-197009000-00171