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Article

Distribution of SERPINA1 gene mutations in patients with spontaneous pneumothorax: A cross-sectional study from a tertiary chest diseases clinic in Turkiye.

Medicine - 3 Oct 2025

Gegin Savaş, Aksu Esra Arslan, Temel Necmiye Gül, Yilmaz Muhammet Ali, Çelik Deniz, Özdemir Burcu, Özdemir Levent

Abstract excerpt

Spontaneous pneumothorax (SP) is characterized by air accumulation between the visceral and parietal pleural layers without traumatic or iatrogenic causes. Although its etiology is not fully understood, risk factors include low body mass index, tall stature, smoking, and male sex. Alpha-1 antitrypsin deficiency (AATD), caused by SERPINA1 mutations, may contribute to secondary SP (SSP) through mechanisms such as...

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Identifiers

PMID: 41054037
DOI: 10.1097/MD.0000000000045043
PMCID: PMC12499657

Genes

SERPINA1

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