The objective of this study was to define pathologic mechanisms of primary spontaneous pneumothorax in patients with connective tissue dysplasia (CTD). Methods. We followed-up 42 young patients with CTD and bullous emphysema in the lung CT without history of primary spontaneous pneumothorax. Results of clinical, functional, radiological and molecular testing were compared with morphological examination of resected lung tissue specimens from 165 patients underwent lung surgery for primary spontaneous pneumothorax. Results. Two mechanisms underlying emphysema in CTD patients were defined. Conclusion: The results supported a hypothesis of causative relationship between congenital CTD and bullous emphysema in young patients.
To study the respiratory symptomatology in patients with connective tissue dysplasia (CTD) were surveyed 305 young people. Clinical and functional components of bronchopulmonary syndrome in CTD were identified through a comprehensive examination, including the use of standardized questionnaires and scales, and functional methods.
Summary. Four clinical phenotypes of respiratory syndrome have been identified in patients with connective tissue dysplasia using the mathematical modeling method. All phenotypes were characterized by different clinical manifestations and functional disorders and had different independent predictors. The most common chronic bronchitis phenotype was related to tobacco smoking and included early obstructive disorders. Bullous phenotype also predominantly occurred in smokers and comprised apical subpleural bullae or blebs. A probable genetic basis of the bullous phenotype is mutations in alleles of the matrix metalloproteinases MMP1 and MMP9. Thoracodiaphragmatic phenotype was typical for patients with the chest and the spine deformities and was characterized by restrictive disorders. Hyperventilation phenotype was closely related to autonomic dysfunction and increased anxiety, predominantly in females.
Summary. Four clinical phenotypes of respiratory syndrome have been identified in patients with connective tissue dysplasia using the mathematical modeling method. All phenotypes were characterized by different clinical manifestations and functional disorders and had different independent predictors. The most common chronic bronchitis phenotype was related to tobacco smoking and included early obstructive disorders. Bullous phenotype also predominantly occurred in smokers and comprised apical subpleural bullae or blebs. A probable genetic basis of the bullous phenotype is mutations in alleles of the matrix metalloproteinases MMP1 and MMP9. Thoracodiaphragmatic phenotype was typical for patients with the chest and the spine deformities and was characterized by restrictive disorders. Hyperventilation phenotype was closely related to autonomic dysfunction and increased anxiety, predominantly in females.
Summary. To evaluate a role of polymorphic variants of alpha1-antitrypsin (AAT) genes and matrix metalloproteinase (MMP) genes for heritable susceptibility to bullous emphysema and primary spontaneous pneumothorax (PSP) in patients with connective tissue dysplasia (CTD), we analyzed polymorphic loci of PIZ (Glu342Lys), PIS (Glu264Val), MMP1 (1607insG), MMP9 (C-1562T), MMP12 (A-82G), and TIMP1 (С536Т) genes and studied serum AAT concentration. We did not find any significant difference between prevalence of the Z- and S-mutations of PI gene and serum AAT concentration between groups. MMP1 homozygous GG/GG genotype was associated with risk of PSP development (odds ratio (OR), 2.23; 95 % confidence interval (СI): 1.34–3.73), MMP1 GG allele (OR, 2.27; 95 % CI: 1.61–3.20), MMP9 heterozigous С/Т genotype (OR, 2.43; 95%CI: 1.37–4.31), MMP9 homozygous Т/Т genotype (OR, 4.38; 95 % CI: 1.12–20.00), MMP9 T allele (OR, 2.78; 95 % CI: 1.74–4.46). All alleles and genotypes were found significantly more often in patients with signs of CTD. No statistically significant difference for any polymorphic locus of the studied genes was seen between prevalence of allele variants in patients with PSP but not having CTD and in population sample.
The paper presents a comprehensive program of rehabilitation of patients with bullous emphysema and spontaneous pneumothorax and connective tissue dysplasia. To assess its effect 64 patients are examined with first episode of spontaneous pneumothorax before and after the rehabilitation course. As a result the improved lung function and cardiac activity, noted as positive dynamics of the emphysematous changes according to computed tomography, decreased the number of recurrent spontaneous pneumothorax, and improved quality of life indicators.
For an estimation of tobacco smoking influence on a respiratory tract condition 1250 students at the age of 18-22 years from which 653 (52.2%) regularly smoked are surveyed. Prevalence of a connective tissue dysplasia has made 20.6%. Persons with connective tissue dysplasia had higher degree of nicotinic dependence at the comparable experience of smoking and feature of motivation to smoking. Smoking students with connective tissue dysplasia showed the complaints is more often, allowing to suspect presence of a chronic bronchitis. At research of spirometric values in smoking students with connective tissue dysplasia authentically lower value of indicators are found in change of the form curve "flow volume" and augmentation of polymorphonuclear elastase and interleukin 8 in the induced sputum.
The paper presents the study of 286 patients with spontaneous pneumotoraks. It was revealed that the patients with sings of CTD after similar methods of surgical treatment had more relapses and intermittent course of spontaneous pneumotoraks. We developed the models to predict the relapse rate of spontaneous pneumatoraks for the closest 12 month. Connective tissue dysplasia, surgical treatment with pleurodesis induction and history of smoking are the main predictors of model.
С целью определения влияния курения табака на состояние респираторного тракта обследовано 1250 студентовв возрасте 18–22 года, из которых 653 (52,2%) регулярно курили. Распространенность дисплазии соединительной ткани (ДСТ) составила 20,6%. Лица с ДСТ имели более высокую степень никотиновой зависимости при сопоставимом стаже курения и особенности мотивации к курению. Курящие студенты с ДСТ чаще предъявляли жалобы, позволяющие заподозрить наличие хронического бронхита. При исследовании функции внешнего дыханияу курящих студентов с ДСТ выявлены достоверно более низкие значения показателей при изменении формыкривой “поток – объем” и увеличение содержания полиморфноядерной эластазы и интерлейкина8 в индуцированной мокроте.
Summary. Results of observation of 642 patients with primary spontaneous pheumothorax are given in this article. To determine the etiology of bullous emphysema we performed targeted search of phenotypic criteria of inherited connective tissue disorders. We found that 75 % of patients with primary spontaneous pheumothorax had signs of the connective tissue dysplasia such as the asthenic somatotype, low body mass index, the chest and the spine deformities, joint hypermobility, mitral valve prolapse, myopia, varicose phlebectasia, etc. Results of the study confirm the fact that inherited disorders of the connective tissue could play an important role in the pathogenesis of bullous emphysema.
For revision patogenetic mechanism of the forming bullosis emphysema were selected 76 young patients with spontaneous pneumothorax. The patients were divided into 2 groups according to the smoking habit. In addition to standard examination the signs of displasia connective tissue, the concentration of neutrfil elastasa and interleykin-8 in phlegm, the level of a1-AT, the factors of general oxyding and the general antioidant abilities were defined. The smoking patient with displasia connective tissue had the relapses of bullosis emphysemas, the double-sided defeat and the large sizes of bulls, the reducing general antioxydanting abilities in blood serum and developing of the relative deficit of a1-AT.
