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.
Во второй части проекта Российских рекомендаций, принятых на Х Национальном форуме с международным участием «Здоровье детей: профилактика и терапия социально значимых заболеваний» 11 мая 2016 года в Санкт-Петербурге, представлены данные об особенностях диагностики и лечения проявлений дисплазии соединительной ткани в детской кардиологии, нефрологии, гастроэнтерологии, пульмонологии, гематологии, ортопедии и в других разделах педиатрии. Ключевые слова: соединительная ткань, наследственные нарушения, дети The second part of the draft of the Russian Recommendations adopted at X National Forum with international participation «Children's health: prevention and treatment of socially significant diseases», May 11, 2016 in St. Petersburg, presents the data on the diagnostic features and treatment of the manifestations of connective tissue dysplasia in pediatric cardiology, nephrology, gastroenterology, pulmonology, hematology, orthopedics and in other sections of pediatrics.
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