Genetic, host, and environmental interactions in a 19 year old with severe chronic obstructive lung disease; observations regarding the pathophysiology of airflow obstruction.
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.
Division of Pulmonary Critical Care and Sleep Medicine, Department of Radiology, St Luke's Roosevelt Hospital Center, New York, NY 10019, USA.
Horiana B
HB
Grosu
Jonathan
J
Killam
Elvina
E
Khusainova
James
J
Lozada
Andrew
A
Needelman
Edward
E
Eden
D055371:Acute Lung Injury / Q000209:etiology; D004502:Education, Medical, Continuing; D004781:Environmental Exposure / Q000009:adverse effects*; D005260:Female; D059647:Gene-Environment Interaction; D006548:Hernia, Diaphragmatic / Q000150:complications; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D019568:Lung, Hyperlucent / Q000209:etiology; D008297:Male; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics* / Q000503:physiopathology*; D012720:Severity of Illness Index; D055815:Young Adult; D019896:alpha 1-Antitrypsin Deficiency / Q000175:diagnosis / Q000235:genetics