Genetic, host, and environmental interactions in a 19 year old with severe chronic obstructive lung disease; observations regarding the pathophysiology of airflow obstruction

Horiana B Grosu,1 Jonathan Killam,2 Elvina Khusainova,3 James Lozada,1 Andrew Needelman,4 Edward Eden11Division of Pulmonary Critical Care and Sleep Medicine, 2Department of Radiology, 3Department of Medicine, St Luke's Roosevelt Hospital Center, New York, 4Mid Hudson Medical Group, Poughkeepsie, New York, USAAbstract: A case of a 19-year-old with severe chronic obstructive pulmonary disease is presented. This case illustrates genetic (severe alpha-1 antitrypsin deficiency) and host factors (such as developmental diaphragmatic hernia and the innate response to injury), and environmental (high oxidative stress and lung injury) interactions that lead to severe chronic obstructive lung disease. The development of chronic lung disease was caused by lung injury under high oxidative and inflammatory conditions in the setting of a diaphragmatic hernia. In the absence of normal alpha-1 antitrypsin levels, a pro-elastolytic environment in the early period of lung growth enhanced the development of severe hyperinflation and precocious airflow obstruction.Keywords: Swyer James Macleod syndrome, alpha-1 antitrypsin deficiency, bronchopulmonary dysplasia, chronic obstructive pulmonary disease