Clinical phenotypes of respiratory syndrome in patients with connective tissue dysplasia

Abstract

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.