CONNECTIVE TISSUE DYSPLASIA AS A MORPHOFUNCTIONAL BASIS OF MULTIPLE ORGAN PATHOLOGY IN CHILDREN (ANALYSIS OF A CLINICAL CASE)

Abstract

Introduction. Connective tissue dysplasia in the modern sense is a genetically determined and/or congenital anomaly of the structure and function of connective tissue of various organs and systems, which is characterized by genetic heterogeneity and a variety of clinical manifestations from benign subclinical forms to the development of multiple organ and polysystemic pathology with a progressive course. Despite the continuing scientific relevance, in practical medicine, the problem of connective tissue dysplasia is not always given due attention. The article presents a brief review of the literature on the etiology, pathogenesis, classification, clinical and laboratory diagnosis of connective tissue dysplasia. The systemic nature of lesions of various organs and tissues is emphasized, due to the wide presence of connective tissue in the body.

Case description. The main section of the article is devoted to the clinical analysis of a patient with connective tissue dysplasia. Long-term clinical observation allowed us to present a chronological picture of the formation of various syndromes of undifferentiated connective tissue dysplasia: from congenital cystic lung disease to manifest clinical lesions of the cardiovascular system, musculoskeletal system, kidneys, visual organ and digestive tract with the need for surgical intervention. Attention is focused on the clinical features of the course of organ pathology against the background of connective tissue dysplasia. The possibilities of modern molecular genetic diagnostics of pathology are demonstrated.

Conclusion. The article substantiates the importance of timely detection of external and visceral manifestations of connective tissue dysplasia to optimize the diagnosis of comorbid conditions in this pathology. Special attention is paid to the need for a multidisciplinary approach to the management of such patients, their rational individualized medical examination both in children's practice and when transferring to an adult network.