Multifactorial and hereditary connective tissue disorders in children. diagnostic algorithms. management tactics. russian guidelines

Abstract

Monogenic forms of inherited disorders of connective tissue and multifactorial connective tissue dysplasia are quite common in the population. Despite the high level of modern molecular techniques, clarification of their nosology of today, still remains a distant prospect. These difficulties are due to a large variety of mutations expressed their phenotypic polymorphism clinical manifestations, the considerable size of the genes encoding the proteins of the connective tissue, a rarity major mutations and low availability of molecular genetic research methods to verify the diagnosis. Clarification of the incidence of connective tissue displasia hindered by the lack of common terminology, standardized diagnostic criteria, as well as the practical inaccessibility of modern molecular genetic techniques to identify this heterogeneous pathology. The first part is devoted to the recommendations of the pediatric aspects of diagnosis of hereditary disorders of connective tissue with agreed international diagnostic criteria, and connective tissue displasia. Details covered principles of tactics and treatment of patients with this pathology. The attention of researchers aimed at studying the problems of the modifying effect of this disease on the nature of the flow of almost all diseases. This proves the feasibility of making additions to the standards of inspection and management of these patients with the mandatory inclusion of a comprehensive treatment of the underlying disease additional treatment and rehabilitation, correcting disorders caused by comorbidities.

Renocardiac syndrome in a child with non-inherited connective tissue disease

“…В настоящий момент используется унифицированная терминология, основанная на рекомендациях проекта «Наследственные и многофакторные нарушения соединительной ткани у детей» [3]. Согласно данному проекту целесообразно выделять наследственные нарушения соединительной ткани и ДСТ ненаследственного характера.…”

Clinical Significance of Laminin and Elastine Levels in Children With Undifferentiated Connective Tissue Disease

“…The importance of detecting the undifferentiated connective tissue disease is challenged by its high incidence (up to 80%) and ambiguous interpretation of phenotypic and visceral signs. The diagnostic criteria for the degree of its severity are proposed by researchers from different countries [1,2,3,4].…”

Impact of connective tissue dysplasia on heart adaptation to exercise stress in young athletes

“…Connective tissue dysplasia (CTD) relates to inherited defects of fiber structure [1]. Collagen synthesis impairment is accompanied with the decrease of tissue elastic properties and may result in impairment of human organs and systems forming [2]. For instance, heart manifestation of CTD is the appearance of anomalous structuresfalse tendons that are not connected to the heart valve apparatus [3][4][5][6][7].…”