[Homozygous alpha 1-antitrypsin deficiency. Lung changes in children and adolescents]

Homozygous alpha 1-antitrypsin deficiency can lead to pan-lobular emphysema early in adulthood. Based on own studies and a review of the literature the article dates up the knowledge about risk factors (especially smoking), the variable clinical pattern (relationship to bronchial hyperreactivity) and pulmonary function (30% pulmonary hyperinflation) of children and adolescents with homozygous alpha 1-antitrypsin deficiency (PIZZ). It discusses diagnostic (selective screening, regular lung function tests) and therapeutic possibilities (substitution) as well as preventive aspects (passive and active smoking cessation).