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Frequency Of Alpha-1 Antitrypsin Deficiency And Unexpected Results In Copd Patients In Turkey; Rare Variants Are Common, Mustafa Çörtük, Bariş Demi̇rkol, Meli̇h Akay Arslan, Umut İlhan, Yunus Emre Kalkan, Demet Turan, Şule Gül, Hali̇t Çinarka, Kürşad Nuri̇ Baydi̇li̇, Erdoğan Çeti̇nkaya
Frequency Of Alpha-1 Antitrypsin Deficiency And Unexpected Results In Copd Patients In Turkey; Rare Variants Are Common, Mustafa Çörtük, Bariş Demi̇rkol, Meli̇h Akay Arslan, Umut İlhan, Yunus Emre Kalkan, Demet Turan, Şule Gül, Hali̇t Çinarka, Kürşad Nuri̇ Baydi̇li̇, Erdoğan Çeti̇nkaya
Turkish Journal of Medical Sciences
Background/aim: Alpha-1 antitrypsin (?1-AT) is a protease inhibitor that is largely released from liver cells. It inhibits neutrophil elastase and its deficiency increases the risk of developing chronic obstructive pulmonary disease (COPD). The frequency of ?1-AT deficiency has been reported with different prevalence rates in different parts of the world. The most common ?1-AT variant causing ?1-AT deficiency is the Pi*Z allele. In this study, we aimed to determine the frequency of the ?1-AT genotypic variant in COPD patients in our country. Materials and methods: In this study, 196 consecutive COPD patients admitted to our clinic were included. In addition …