Association of alpha 1-Antitrypsin deficiency and genetic predisposition in primary spontaneous pneumothorax

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ŞAHİN T., ÖZSOY İ. E., TEZCAN M. A., Kocer D., ERDOĞAN M.

Journal of the College of Physicians and Surgeons Pakistan, cilt.31, sa.7, ss.775-779, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 7
  • Basım Tarihi: 2021
  • Doi Numarası: 10.29271/jcpsp.2021.07.775
  • Dergi Adı: Journal of the College of Physicians and Surgeons Pakistan
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.775-779
  • Anahtar Kelimeler: Primary spontaneous pneumothorax, Alpha 1 antitrypsin deficiency, Genotype variants, SERPINA 1 gene
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Objective: To 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 Design: Cross-sectional descriptive study. Place and Duration of Study: Kayseri City Training and Research Hospital, Turkey, from October 2019 to October 2020. Methodology: A 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. Results: In 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%). Conclusion: AAT 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.