medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/ms2024-138medsovet-8239Research ArticleРЕВМАТОЛОГИЯRHEUMATOLOGYНаследственные заболевания человека со скелетной патологией – молекулярный патогенез и клиническая характеристикаHereditary human diseases with skeletal pathology – molecular pathogenesis and clinical characteristicshttps://orcid.org/0000-0003-1643-3719ВалееваД. И.ValeevaD. I.

Валеева Диана Ильдаровна, ассистент кафедры внутренних болезней и клинической психологии

450008, Республика Башкортостан, Уфа, ул. Ленина, д. 3

Diana I. Valeeva, Assistant at the Department of Internal Medicine and Clinical Psychology

3, Lenin St., Ufa, Republic of Bashkortostan, 450008

diana2537@yandex.ruhttps://orcid.org/0000-0002-8643-850XХусаиноваР. И.KhusainovaR. I.

Хусаинова Рита Игоревна, д.б.н., профессор кафедры медицинской генетики и фундаментальной медицины, Башкирский государственный медицинский университет; главный научный сотрудник Научноисследовательского института персонализированной медицины, Национальный медицинский исследовательский центр эндокринологии;

450008, Республика Башкортостан, Уфа, ул. Ленина, д. 3,

117292, Москва, ул. Дмитрия Ульянова, д. 11

Rita I. Khusainova, Dr. Sci. (Biol.), Professor of the Department of Medical Genetics and Fundamental Medicine, Bashkir State Medical University; Chief Researcher of the Research Institute of Personalized Medicine, National Medical Research Centre for Endocrinology

3, Lenin St., Ufa, Republic of Bashkortostan, 450008,

11, Dmitry Ulyanov St., Moscow, 117292

ritakh@mail.ruhttps://orcid.org/0000-0002-5590-7270ХусаиноваЛ. Н.KhusainovaL. N.

Хусаинова Леонора Нурфаизовна, к.м.н., доцент кафедры внутренних болезней и клинической психологии

450008, Республика Башкортостан, Уфа, ул. Ленина, д. 3

Leonora N. Khusainova, Cand. Sci. (Med.), Associate Professor of the Department of Internal Medicine and Clinical Psychology

3, Lenin St., Ufa, Republic of Bashkortostan, 450008

eonora73@yandex.ruhttps://orcid.org/0000-0002-0841-3024ТюринА. В.TyurinA. V.

Тюрин Антон Викторович, к.м.н., доцент, заведующий кафедрой внутренних болезней и клинической психологии

450008, Республика Башкортостан, Уфа, ул. Ленина, д. 3

Anton V. Tyurin, Cand. Sci. (Med.), Associate Professor, Head of the Department of Internal Medicine and Clinical Psychology

3, Lenin St., Ufa, Republic of Bashkortostan, 450008

anton.bgmu@gmail.comБашкирский государственный медицинский университетРоссияBashkir State Medical UniversityRussian FederationБашкирский государственный медицинский университет; Национальный медицинский исследовательский центр эндокринологииРоссияBashkir State Medical University; National Medical Research Centre for EndocrinologyRussian Federation20241105202405202213Copyright © Валеева Д.И., Хусаинова Р.И., Хусаинова Л.Н., Тюрин А.В., 20242024Валеева Д.И., Хусаинова Р.И., Хусаинова Л.Н., Тюрин А.В.Valeeva D.I., Khusainova R.I., Khusainova L.N., Tyurin 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.med-sovet.pro/jour/article/view/8239

Дифференциальная диагностика наследственных заболеваний является сложной задачей из-за схожих клинических проявлений, многообразия нозологий, широкой клинической вариабельности и генетической гетерогенности, степени тяжести, редкой частоты и сложной молекулярной этиологии. При некоторых из них происходит вовлечение в патологический процесс соединительной ткани в целом, затрагивающий практически все органы и системы организма человека, и в особенности костную ткань, нарушая ее ремоделирование и микроархитектонику. Дефект может возникать на любом из этапов ремоделирования: в процессе инициации, при резорбции кости, дифференцировке остеобластов, минерализации остеоида и др. Нарушение микроархитектоники костной ткани сопровождается развитием низкотравматических переломов и деформаций, ранним остеоартритом, формированием контрактур и хроническим болевым синдромом. Генетические исследования пациентов расширили знания о молекулярных сигнальных путях, координирующих развитие и метаболизм костей, о характере наследования заболеваний, особенностях течения и специфических костных биомаркерах. В данной статье приведен обзор ключевых клеточных механизмов, особенности диагностики и лечения наследственных заболеваний человека, влияющих на состояние костной ткани и скелета: несовершенный остеогенез, синдром Элерса – Данло, синдром Марфана, ювенильный остеопороз, гипофосфатазия, остеопетроз, прогрессирующая диафизарная дисплазия, мукополисахаридозы, ахондроплазия, множественная экзостозная хондродисплазия. С данными заболеваниями могут сталкиваться врачи разных специальностей, а постановка правильного диагноза даст возможность определения правильного алгоритма ведения пациентов и начала своевременного лечения, возможность предотвратить развитие тяжелых осложнений, улучшить качество жизни пациентов, максимально восстановить трудоспособность и уменьшить процент инвалидизации.

Differential diagnosis of hereditary diseases is challenging due to similar clinical manifestations, diversity of nosologies, wide clinical variability and genetic heterogeneity, severity, rare frequency and complex molecular etiology. In some of them, connective tissue as a whole is involved in the pathological process, affecting almost all organs and systems of the human body, and in particular bone tissue, disrupting its remodeling and microarchitecture. The defect can occur at any of the stages of remodeling: during the initiation process, during bone resorption, osteoblast differentiation, osteoid mineralization, etc. Violation of the microarchitecture of bone tissue is accompanied by the development of low-traumatic fractures and deformities, early osteoarthritis, the formation of contractures and chronic pain syndrome. Genetic studies of patients have expanded knowledge about  the molecular signaling pathways that coordinate bone development and metabolism, the nature of disease inheritance, clinical features, and specific bone biomarkers. This article provides an overview of key cellular mechanisms, features of diagnosis and treatment of hereditary human diseases that affect the condition of bone tissue and skeleton: osteogenesis imperfecta, EhlersDanlos syndrome, Marfan syndrome, juvenile osteoporosis, hypophosphatasia, osteopetrosis, progressive diaphyseal dysplasia, mucopolysaccharidoses, achondroplasia, multiple hereditary exostoses. Doctors of different specialties can encounter these diseases, and making a correct diagnosis will make it possible to determine the correct algorithm for patient management and begin timely treatment, the ability to prevent the development of severe complications, improve the quality of life of patients, restore maximum working capacity and reduce the percentage of disability.

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