A retrospective cohort study investigating the etiology of primary spontaneous pneumothorax in children: Radiological and genetic analysis

Abstract

Background/Aim: Spontaneous pneumothorax is a serious health concern due to its life-threatening nature. It occurs when air sacs in the lungs rupture, causing air to accumulate in the chest cavity and making normal breathing difficult. Primary spontaneous pneumothorax (PSP) refers to the accumulation of air in the pleural space without any traumatic or iatrogenic cause. The objectives of our study are to identify the predisposing factors in PSP patients, determine which patients should undergo genetic analysis, and present the results of a new treatment algorithm. Methods: This study is a retrospective cohort analysis of children diagnosed with PSP and admitted to the emergency department or pediatric surgery clinic. The study evaluates demographic data, radiological findings, and molecular genetic analyses of these patients. Treatment planning was conducted using thoracic computed tomography (CT) or high-resolution computed tomography (HRCT) after the acute phase, and eligible patients were selected for genetic analysis based on syndromes commonly associated with PSP. Results: The study included 14 patients, 10 boys and four girls, with an average age of 16.14 (0.95) years. PSP was detected on the right side in nine male patients and on the left side in one male patient, while in girls, it was detected on the right side in two patients and on the left side in two patients. Radiological findings included air cysts, fibrotic changes, and pleural thickening. Folliculin (FLCN) mutation was detected in two patients after genetic analysis. Conclusion: In the stratified treatment protocol, radiological findings were used as a guide, and the detection of possible syndromic mutations by genetic analysis was deemed important for future management.