• Taner Sahin, Ibrahim Ethem Ozsoy, Mehmet Akif Tezcan, Derya Kocer, and Murat Erdogan.
• Emergency Medicine Clinic, Kayseri City Training and Research Hospital, affiliated with University of Health Sciences, Turkey.
• J Coll Physicians Surg Pak. 2021 Jul 1; 31 (7): 775779775-779.

ObjectiveTo determine the association of alpha-1 antitrypsin deficiency (AATD) in patients diagnosed with primary spontaneous pneumothorax (PSP), the presence of the SERPINA 1 gene, and the phenotype in patients with low enzyme values.Study DesignCross-sectional descriptive study.Place And Duration Of StudyKayseri City Training and Research Hospital, Turkey, from October 2019 to October 2020.MethodologyA total of 42 patients with PSP and 42 healthy volunteers were included in the study. The antitrypsin (AAT) level of all participants was measured by the ELISA method. Presence of SERPINA 1 gene was determined in all the participants and its phenotype variants.ResultsIn this study, AAT level was statistically and significantly lower in the patient group than the control group (p = 0.018). The presence of the SERPINA 1 gene was studied in 13 (31%) patients with AATD and 7 (16.7%) healthy volunteers. Six patients had PI M1V variant (37.5%), five patients had PI M1A variant (31.3%), four patients had PI M4 variant (25%), and one patient had an indeterminate variant (6.2%). Four healthy volunteers had PI M1V variant (66.7%), and two healthy volunteers had PI M4 variant (33.3%).ConclusionAAT level was found to be lower in the patient group compared to the control group. In addition, the effect of SERPINA 1 gene on PSP development was found to be benign. AATD is an effective factor in the development of PSP. Key Words: Primary spontaneous pneumothorax, Alpha 1 antitrypsin deficiency, Genotype variants, SERPINA 1 gene.

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