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

Primary spontaneous pneumothorax in children



primary spontaneous pneumothorax, video-assisted thoracic surgery, child, lung


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.


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Bialas RC, Weiner TM, Phillips JD. Video-assisted thoracic surgery for primary spontaneous pneumothorax in children: is there an optimal technique? J Pediatr Surg. 2008 Dec;43(12):2151-5. doi: 10.1016/j.jpedsurg.2008.08.041. PMID: 19040924. DOI: https://doi.org/10.1016/j.jpedsurg.2008.08.041

Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. The Genetics of Pneumothorax. Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-57. doi: 10.1164/rccm.201807-1212CI. PMID: 30681372; PMCID: PMC6543724. DOI: https://doi.org/10.1164/rccm.201807-1212CI

Brown SGA, Ball EL, Perrin K, Asha SE, Braithwaite I, Egerton-Warburton D, et al; PSP Investigators. Conservative versus Interventional Treatment for Spontaneous Pneumothorax. N Engl J Med. 2020 Jan 30;382(5):405-415. doi: 10.1056/NEJMoa1910775. PMID: 31995686. DOI: https://doi.org/10.1056/NEJMoa1910775

Copley SJ, Padley SP. High-resolution CT of paediatric lung disease. Eur Radiol. 2001;11(12):2564-75. doi: 10.1007/s003300100865. Epub 2001 Aug 1. PMID: 11734960. DOI: https://doi.org/10.1007/s003300100865

MacDuff A, Arnold A, Harvey J; BTS Pleural Disease Guideline Group. Management of spontaneous pneumothorax: British Thoracic Society Pleural Disease Guideline 2010. Thorax. 2010 Aug;65 Suppl 2:ii18-31. doi: 10.1136/thx.2010.136986. PMID: 20696690. DOI: https://doi.org/10.1136/thx.2010.136986

Demirhan R, Koşar A, Eryiğit H, Kiral H, Yildirim M, Arman B. Spontan pnömotoraks: 348 olgunun geriye dönük olarak değerlendirilmesi [Spontaneous pneumothorax: retrospective analysis of 348 cases]. Ulus Travma Acil Cerrahi Derg. 2009 Jul;15(4):367-70. Turkish. PMID: 19669967.

Hopkins TG, Maher ER, Reid E, Marciniak SJ. Recurrent pneumothorax. Lancet. 2011 May 7;377(9777):1624. doi: 10.1016/S0140-6736(11)60072-X. PMID: 21550484. DOI: https://doi.org/10.1016/S0140-6736(11)60072-X

Garcia-Peña P, Lucaya J. HRCT in children: technique and indications. Eur Radiol. 2004 Mar;14 Suppl 4:L13-30. doi: 10.1007/s00330-003-2223-y. PMID: 14762683. DOI: https://doi.org/10.1007/s00330-003-2223-y

Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, et al. European BHD Consortium. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol. 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3. PMID: 19959076. DOI: https://doi.org/10.1016/S1470-2045(09)70188-3

Owens C. Pearls and pitfalls in HRCT in children. Paediatr Respir Rev. 2006;7 Suppl 1:S44-9. doi: 10.1016/j.prrv.2006.04.012. Epub 2006 Jun 5. PMID: 16798593. DOI: https://doi.org/10.1016/j.prrv.2006.04.012






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Şahin AH, Angin G, Gerik Çelebi HB, Çelik A, Yılmaz MS. A retrospective cohort study investigating the etiology of primary spontaneous pneumothorax in children: Radiological and genetic analysis: Primary spontaneous pneumothorax in children. J Surg Med [Internet]. 2023 Jul. 13 [cited 2024 Apr. 13];7(7):421-4. Available from: https://jsurgmed.com/article/view/7436