ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v12i5.1461ppharm-1062Research ArticleРЕДКИЕ БОЛЕЗНИRARE DISEASESНовые аспекты генетической основы, классификации и лечения несовершенного остеогенеза: литературный обзорNew Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature ReviewЯхяеваГ. Т.YakhyayevaG. T.

врач-педиатр отделения восстановительного лечения детей с нефроурологическими заболеваниями, ожирением и метаболическими болезнями НИИ профилактической педиатрии и восстановительного лечения ФГБУ «Научный центр здоровья детей» Минздрава России

guzall_2404@mail.ruНамазова-БарановаЛ. С.Namazova-BaranovaL. S.МаргиеваТ. В.MargievaT. V.Научный центр здоровья детей, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Российская Федерация Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Russian Federation Pirogov Russian National Medical Research University, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Russian FederationRussian Federation201502122015125579588Copyright © Яхяева Г.Т., Намазова-Баранова Л.С., Маргиева Т.В., 20152015Яхяева Г.Т., Намазова-Баранова Л.С., Маргиева Т.В.Yakhyayeva G.T., Namazova-Baranova L.S., Margieva T.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/1062

Несовершенный остеогенез характеризуется повышенной ломкостью костей наследственного характера с широким спектром клинических проявлений — от перинатально-летальной формы и тяжелых деформаций костей до самых легких типов течения. В большинстве случаев заболевание развивается вследствие аутосомно-доминантной мутации в гене коллагена I типа. В настоящее время подход к пациентам с несовершенным остеогенезом мультидисциплинарный. В качестве лечения с целью уменьшения числа переломов проводится медикаментозная терапия бисфосфонатами, а также активная реабилитация и хирургическая коррекция деформации костей. Более глубокое понимание патогенеза несовершенного остеогенеза может привести к разработке новых и эффективных терапевтических подходов, которые улучшат функциональный исход у пациентов. 

Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations — from perinatal/lethal form and severe bone deformities to the mildest forms. In most cases, the disease is caused by autosomaldominant mutation in the collagen 1 gene. At present, the approach to patients with osteogenesis imperfecta is multidisciplinary. Bisphosphonate drug therapy is conducted to reduce the incidence of fractures in the process of treatment, which also involves active rehabilitation and surgical correction of bone deformities. A more profound understanding of pathogenesis of osteogenesis imperfecta may lead to a development of new and effective therapeutic approaches capable of improving functional outcomes in patients. 

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The authors declare that there are no conflicts of interest present.