PREVALENCE AND CLINICAL - GENETIC FEATURES OF CONNECTIVE TISSUE DYSPLASIA IN THE UZBEK POPULATION

Abstract

Connective tissue dysplasia is an issue that requires the attention of specialists from various disciplines (paediatricians, internists, rheumatologists, cardiologists, traumatologists and orthopaedists, gastroenterologists, neurologists, clinical geneticists, as well as general practitioners). The morphological changes observed in the clinical examination of patients are characterised by a variety of clinical manifestations: from benign subclinical forms to multi-organ and multi-system pathologies with a progressive course, based on defects in collagen structure, which lead to changes in fibrous structures and connective tissue basic substance, causing structural and functional disorders of all organs. The genetic aspect of the disease is of particular relevance, in order to determine the burden of this pathology, especially in the Uzbek population. It should be noted that such a problem in the Uzbek population has been insufficiently studied, and the available data are fragmented and irrelevant