Бугайова О. Collation clinical and biochemical phenotype at Ehlers-Danlos syndrome.

Object of the study: Ehlers-Danlos syndrome (EDS). Purpose of the study: determination of the clinical and biochemical polymorphism and revealing of the width of the pleiotropic action of genes in EDS in the research region for the effective diagnosis, adequate therapy and prophylaxis. Methods of the study: somatogenetic study with the syndromological analysis and the analysis of genealogy, complex modern methods of biochemical and molecular-genetic diagnosis and statistical methods of processing in compliance with the known methods of empirical data registration. Practical significance: it was proved that the specifying diagnosis of hereditary pathology and EDS was the most effective one, including a simultaneous participation of clinicians, geneticists, biochemists and molecular geneticists (a so-called “board of experts”) in it. The use of data of the somatogenetic examination and modern technologies made it possible to assess the clinical and biochemical variants of EDS from the positions of clinical proteognomics (a modern direction in the diagnosis of hereditary diseases) and introduce such an approach into the everyday activity of the geneticist. Results of the conducted researches were introduced into the practical activity of the Kharkiv, Kriviy Rig specialized medical-genetic centres, Poltava and Chernigiv Regional medical-genetic dispensaries. Novelty of the obtained results: for the first time, the research uses principles of the modern clinical proteognomics: a simultaneous study of the clinical, biochemical and molecular-genetic characteristics of EDS in real time. The work revealed a rate of the syndromal forms of EDS in the region of research and studied the width of the pleiotropic action of genes on the basis of the assessment of the clinical polymorphism of EDS; criteria for confirming the diagnosis of new variants of EDS were established. Clinical-biochemical characteristics of EDS variants, which are not included into the existing classification, were described. A dynamics of the mainindices of the connective tissue metabolism in EDS was studied, the clinical and biochemical phenotypes were compared for an adequate differentiated diagnosis and making grounds for directions in the pathogenetic treatment and prophylaxis. Introduction: results of the conducted researches were introduced into the practical activity of the Kharkiv, Kriviy Rig Specialized Medical-Genetic Centres, Poltava and Chernigiv Regional Medical-Genetic Dispensaries. By the results of the thesis research, 2 methodological recommendations and a textbook chapter were developed and are used for training doctors, delivering lectures and conducting practical classes with students of Kharkiv National Medical University. Sphere of application: medicine, genetics.