Alpha- 1 Antitrypsin Deficiency (AATD) in Children: Pulmonary Involvement

Introduction Alpha-1 Antitrypsin Deficiency (AATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation We describe a 13 year old boy because of exertional dyspnea, wheezing, productive cough and repeated hospital admission due to bronchopneumonia. There was no immune deficiency, sinusitis and allergic lung disease. There was no history of foreign body aspiration. Cystic fibrosis cause ruled out. Protein electrophoresis and serum level alpha1-AT evaluation documented alpha1-ATD. The patient was treated with conservative management. Conclusion This article suggests that if a child presents with chronic pulmonary symptoms, possibility of alpha1-ATD should be considered and worked up.