ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v16i1.2001ppharm-1693Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCASE REPORTVI тип несовершенного остеогенеза. Наблюдение редкого случаяClinic Case of Rare Type VI Osteogenesis Imperfectahttps://orcid.org/0000-0002-6265-7281ИгнатовичО. Н.IgnatovichOlga N.

Игнатович Ольга Николаевна, аспирант

119991, Москва, Ломоносовский пр-т, д. 2, стр. 3

next81@yandex.ruhttps://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.https://orcid.org/0000-0002-2395-1322МаргиеваТ. В.MargievaTea V.https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.https://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovKirill V.https://orcid.org/0000-0001-6648-2063ПушковА. А.PushkovAlexander V.Национальный медицинский исследовательский центр здоровья детейРоссияNational Medical Research Center of Children’s HealthRussian FederationРоссийский национальный исследовательский медицинский университет имени Н.И. Пирогова; Центральная клиническая больница РАНРоссияPirogov Russian National Research Medical University; Central Clinical Hospital of the Russian Academy of SciencesRussian Federation2019180420191613035Copyright © Игнатович О.Н., Намазова-Баранова Л.С., Маргиева Т.В., Журкова Н.В., Савостьянов К.В., Пушков А.А., 20192019Игнатович О.Н., Намазова-Баранова Л.С., Маргиева Т.В., Журкова Н.В., Савостьянов К.В., Пушков А.А.Ignatovich O.N., Namazova-Baranova L.S., Margieva T.V., Zhurkova N.V., Savostyanov K.V., Pushkov A.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/1693

Несовершенный остеогенез — генетически гетерогенная группа заболеваний, отличительной чертой которых являются хрупкость костей и переломы, возникающие, как считалось долгое время, вследствие мутаций в генах коллагена. Однако, в течение последнего десятилетия скачок в области генетических открытий обусловил появление новой парадигмы понимания этиологии несовершенного остеогенеза, где большинство случаев связано с наличием дефекта в коллагеновых генах, в то время как редкие, в основном рецессивные формы связаны с дефектами генов, влияющих на посттрансляционную модификацию коллагена. В 2011 г. мутации в гене SERPINF1 были идентифицированы в качестве молекулярной причины развития VI типа несовершенного остеогенеза, и тем самым, была выявлена новая патофизиология заболевания. Дети с несовершенным остеогенезом VI типа имеют высокую частоту переломов, несмотря на проведение стандартной терапии бисфосфонатами, т.к. площадь минерализованного остеоида кости при данном типе заболевания значительно уменьшена.

Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the understanding of osteogenesis imperfecta etiology has changed as a result of genetics development. The majority of all cases is related to mutations in collagen genes whereas rare mostly recessive forms are related to mutations in genes encoding collagen post-translational modification. Mutations in SERPINF1 gene were chosen as molecular cause of osteogenesis imperfecta type VI in 2011. Thus the new pathophysiology of this disease was revealed. Children with osteogenesis imperfecta type VI have high-frequency of fractures despite the management with bisphosphonates because mineralized bone osteoid is considerably reduced.

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