genortГений ортопедииGenij Ortopedii1028-44272542-131XЦЕНТР ИЛИЗАРОВА10.18019/1028-4427-2021-27-4-453-460genort-31Research ArticleОригинальные статьиOriginal articlesНесовершенный остеогенез: современные аспекты этиологии, патогенеза, классификации (систематический обзор)Osteogenesis imperfecta: current issues of etiology, pathogenesis, classification (systematic review)https://orcid.org/0000-0002-8293-0521РябыхС. О.RyabykhS. O.

Рябых Сергей Олегович, д. м. н.,

г. Курган

Sergey O. Ryabykh, M.D., Ph.D.,

Kurgan

rso_@mail.ruhttps://orcid.org/0000-0002-8996-867XПопковД. А.PopkovD. A.

Попков Дмитрий Арнольдович, д. м. н., профессор РАН, член‑корр. Французской Академии медицинских наук,

г. Курган

Dmitry A. Popkov, M.D., Ph.D., Professor of RAS, correspondent member French Academy of Medical Sciences,

Kurgan

dpopkov@mail.ruЩуроваЕ. Н.ShchurovaE. N.

Щурова Елена Николаевна, д. б. н.,

г. Курган

Elena N. Shchurova, Ph.D. of Biological Sciences,

Kurgan

elena.shurova@mail.ruhttps://orcid.org/0000-0001-5172-4429ОчироваП. В.OchirovaP. V.

Очирова Полина Вячеславовна, к. м. н.,

г. Курган

Polina V. Ochirova, M.D., Ph.D.,

Kurgan

poleen@yandex.ruhttps://orcid.org/0000-0002-9315-3035РябыхТ. В.RyabykhT. V.

Рябых Татьяна Викторовна,

г. Курган

Tat'iana V. Ryabykh, M.D.,

Kurgan

rtatav@rambler.ruФедеральное государственное бюджетное учреждение «Национальный медицинский исследовательский центр травматологии и ортопедии имени академика Г.А. Илизарова» Министерства здравоохранения Российской ФедерацииРоссияIlizarov National Medical Research Centre for Traumatology and OrthopedicsRussian Federation202128082021274№ 4 (2021)453460Copyright © Рябых С.О., Попков Д.А., Щурова Е.Н., Очирова П.В., Рябых Т.В., 20212021Рябых С.О., Попков Д.А., Щурова Е.Н., Очирова П.В., Рябых Т.В.Ryabykh S.O., Popkov D.A., Shchurova E.N., Ochirova P.V., Ryabykh 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.ilizarov-journal.com/jour/article/view/1028-4427-2021-27-4-453-460

Постоянно меняющаяся информация о генетической природе несовершенного остеогенеза (НО), новые подходы к классификации и диагностике, возрастающий интерес к данной патологии требует тщательного анализа и обобщения имеющихся данных в современной литературе.

Цель

Цель. Анализ современной литературы по вопросам эпидемиологии, патогенеза, этиологии, классификации несовершенного остеогенеза.

Материалы и методы

Материалы и методы. Поиск литературы проведен по базам научной литературы PubMed, Web of Science, Scopus, eLIBRARY, РИНЦ, библиографии ключевых статей. Использовались следующие критерии включения: обзоры литературы, обзорные статьи, мультицентровые исследования, когортные исследования пациентов с несовершенным остеогенезом.

Результаты

Результаты. В данный систематический обзор были включены 18 публикаций, которые соответствовали критериям включения. Все отобранные публикации, относились к периоду 2012–2020 годов. По дизайну исследования это были обзорные статьи или обзоры литературы.

Обсуждение

Обсуждение. Несовершенный остеогенез является одной из самых распространенных скелетных дисплазий, фенотипически и генетически гетерогенной группой наследственных костных заболеваний. Для НО характерна высокая степень вариабельности проявлений даже в пределах одного типа и одной семьи. Результаты анализа распространенности данного заболевания в разных группах населения остаются до конца не освещенными. До сих пор не определена степень генетической гетерогенности заболевания. Продолжаются исследования, идентифицирующие новые гены, вовлеченные в патогенез НО. Внедрение современных методов определения мутаций в генах способствовало прогрессу исследования молекулярного патогенеза несовершенного остеогенеза, определению новых генов, мутации в которых могут привести к НО. Большое количество причинных генов усложняет процесс создания оптимальной классификации НО. Трудность создания исчерпывающей классификации подтипов НО состоит в том, что нет четкой взаимосвязи фенотип-генотип, на основании мутации нельзя делать выводы о клинической тяжести.

Заключение

Заключение. Классификация различных типов несовершенного остеогенеза все еще остается предметом продолжающихся дискуссий и исследований. 

The constantly changing information about the genetic nature of osteogenesis imperfecta (OI), new approaches to classification and diagnosis, and the growing interest in this pathology require careful analysis and generalization of the available data in the recent literature.

Purpose

Purpose. Analysis of recent literature on epidemiology, pathogenesis, etiology, classification of osteogenesis imperfecta.

Materials and methods

Materials and methods. The literature search was carried out in the scientific literature databases of PubMed, Web of Science, Scopus, eLIBRARY, RSCI, and references of the key works. The following inclusion criteria were used: literature reviews, review articles, multicenter studies, cohort studies of patients with osteogenesis imperfecta.

Results

Results. This systematic review included 18 publications that met the inclusion criteria. All selected publications were published within the period from 2012 to 2020. The study designs were review articles or literature reviews. Discussion Osteogenesis imperfecta is one of the most common types of skeletal dysplasia, a phenotypically and genetically heterogeneous group of hereditary bone diseases. OI is characterized by high variability of manifestations, even within the same type and one family. The results of the analysis of the prevalence of this disease in different population groups remain not fully covered. The degree of genetic heterogeneity of the disease has not yet been determined. Research is ongoing to identify new genes involved in the pathogenesis of OI. The introduction of modern methods for determining mutations in genes contributed to the progress of research into the molecular pathogenesis of osteogenesis imperfecta, and identification of new genes, mutations in which lead to OI. The large number of causative genes complicates the process of creating an optimal classification of OI. The difficulty of creating a comprehensive classification of OI subtypes is the fact that there is no clear phenotype-genotype relationship; based on the mutation, conclusions about its clinical severity cannot be drawn.

Conclusion

Conclusion. The classification of various types of osteogenesis imperfecta is still the subject of ongoing debate and research.

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