[Clinical aspects, results of diagnostic pulmonary function tests and biochemical parameters in children with homozygote alpha-1-antitrypsin deficiency]

The clinical course and pulmonary function tests of individuals with severe Alpha-1-Antitrypsin (Alpha-1-AT) deficiency reveal a marked interindividual variability. 4 patients with PI type ZZ and 2 patients with PI type SZ had been identified by neonatal cholestasis. None had pulmonary symptoms at a mean age of 13 (range 9-16) years. Lung function tests disclosed signs of incipient pulmonary emphysema in one girl. Bronchial hyperreactivity had led to the diagnosis of Alpha-1 AT-deficiency (PI type ZZ) in another girl at the age of 7 years. The biochemical analysis of the serum of three children (two PI ZZ and one PI SZ) revealed additional protease inhibitors that may be effective as compensatory mechanisms. The lack of those protective factors as well as the presence of environmental hazards may contribute to the increased risk of emphysema in individual patients.