scholarly journals Clinical course and prognosis of never-smokers with severe alpha-1-antitrypsin deficiency (PiZZ)

Thorax ◽  
2008 ◽  
Vol 63 (12) ◽  
pp. 1091-1095 ◽  
Author(s):  
H A Tanash ◽  
P M Nilsson ◽  
J-A Nilsson ◽  
E Piitulainen
2021 ◽  
Author(s):  
Ramón Antonio Tubío-Pérez ◽  
María Torres-Durán ◽  
María Esmeralda García-Rodríguez ◽  
Cristina Candal-Pereira ◽  
Julia Rey-Brandariz ◽  
...  

Abstract Background Lung cancer (LC) is the most commonly diagnosed cancer and the leading cause of cancer-related death in both sexes worldwide. Although its principal risk factor is smoking habit, there are genetic mutations, such as alpha-1 antitrypsin deficiency (AATD), that have been related with increased risk This study is the continuation of an earlier one published by the same group in 2015, aimed at analysing risk of LC in never-smokers, associated with carriers of the AATD genotype. Methods A multicentre case-control study was conducted in Spain across the period January 2011 to August 2019. Cases were patients with LC, and controls were patients, all never-smokers, undergoing major non-cancer-related surgery. Data were collected on epidemiological characteristics, exposure to environmental tobacco smoke (ETS), residential radon levels, and alpha-1 antitrypsin (AAT) genotype. Results The study included 457 cases (42%) and 631 controls (58%), with a predominance of women. The most frequent histological type was adenocarcinoma (77.5%), followed by squamous cell carcinoma (7.7%). No association of risk of LC was found with the status of AATD genotype carrier, both overall and broken down by age, sex, or exposure to ETS. Conclusions No risk association was found between being a carrier of an AAT deficiency genotype and LC among never-smokers. Even so, new studies are required to provide fuller information in this regard with respect to never-smokers, and possibly even include previous respiratory diseases.


2018 ◽  
Vol 69 (9) ◽  
pp. 2591-2593
Author(s):  
Cristina Grigorescu ◽  
Liviu Ciprian Gavril ◽  
Laura Gavril ◽  
Tiberiu Lunguleac ◽  
Bogdan Mihnea Ciuntu ◽  
...  

Diagnosis of primary or idiopathic spontaneous pneumothorax is one of exclusion, and in fact defines an entity that may have a difficult or impossible cause to be highlighted by current means, we consider it appropriate to study these etiopathogenic aspects. There is a definite association between alpha-1 antitrypsin deficiency and pulmonary emphysema and indirect spontaneous pneumothorax secondary to an emphysematous pulmonary lesion. Dose of alpha-1 antitrypsin is an immunoturbinimetric method for in vitro determination of alpha-1 antitrypsin in human serum and plasma. This product is calibrated to be used for the Daytona RX analyzer. The serum level of alpha-1-antitrypsin is not a determining factor in the postoperative evolution characterized by the interval until air loss disappears, but certainly exerts some influence, the exact level of which remains to be determined.


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