porozendoОстеопороз и остеопатииOsteoporosis and Bone Diseases2072-26802311-0716Endocrinology Research Centre10.14341/osteo13170porozendo-13170Research ArticleНАУЧНЫЙ ОБЗОРREVIEWКлиническое значение высокой минеральной плотности кости (часть I). Генетические заболевания, вызывающие повышение костной массыClinical meaning of high bone mineral density (Part I). Genetic diseases causing high bone masshttps://orcid.org/0000-0002-1763-0725СкрипниковаИ. А.SkripnikovaI. A.

Скрипникова Ирина Анатольевна, д.м.н., заведующая отделом профилактики остеопороза и коморбидных состояний

Москва

Scopus Author ID: 6602554529

Irina A. Skripnikova, MD, PhD, Dr. habil.

Moscow

Scopus Author ID: 6602554529

iskripnikova@gnicpm.ruhttps://orcid.org/0000-0001-9074-2291ЦориевТ. Т.TsorievT. T.

Цориев Тимур Тамерланович, к.м.н., научный сотрудник, отдел профилактики остеопороза и коморбидных состояний

101990, Москва, Петроверигский пер., 10, стр. 3

Scopus Author ID: 56976386100

Timur T. Tsoriev, MD, PhD

10 Petroverigsky lane, building 3, 101990 Moscow

Scopus Author ID: 56976386100

timur.tsoriev@gmail.comhttps://orcid.org/0000-0002-1389-0271ПоляковаЕ. Ю.PolyakovaE. Yu.

Полякова Елена Юрьевна, к.м.н., научный сотрудник, отдел лучевой диагностики/отделение терапевтической эндокринологии

Москва

Scopus Author ID: 57212507055

ElenaYu. Polyakova, MD, PhD

Moscow

Scopus Author ID: 57212507055

polyakova_eu@mail.ruФГБУ Национальный медицинский исследовательский центр терапии и профилактической медицины Минздрава РоссииРоссияNational Medical Research Center for Therapy and Preventive MedicineRussian FederationГБУЗ Московский областной научно-исследовательский клинический институт имени М.Ф. ВладимирскогоРоссияMoscow Regional Research and Clinical Institute («MONIKI»)Russian Federation2024110620242723143Copyright © Скрипникова И.А., Цориев Т.Т., Полякова Е.Ю., 20242024Скрипникова И.А., Цориев Т.Т., Полякова Е.Ю.Skripnikova I.A., Tsoriev T.T., Polyakova E.Y.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.osteo-endojournals.ru/jour/article/view/13170

За почти 40-летнюю историю существования двухэнергетической рентгеновской абсорбциометрии (ДРА) основное внимание уделялось рассмотрению вопросов диагностики низкой минеральной плотности кости (МПК), т.е. остеопороза, чему было посвящено множество отечественных и зарубежных публикаций. Значительно меньше освещались проблемы, связанные с повышенной МПК и касающиеся не только сложности интерпретации результатов, но и дальнейшей тактики ведения пациентов. Чаще всего подобные случаи в рутинной клинической практике остаются незамеченными из-за орфанного характера многих заболеваний, приводящих к развитию патологически высокой плотности костной ткани, и как правило трактуются как проявление остеоартроза. Безусловно, артроз, сколиоз и иные деформации суставов (особенно в позвоночнике) являются причиной завышения МПК в большинстве клинических ситуаций. Однако костные дисплазии, проявляющиеся диффузным или очаговым повышением МПК, могут, как и остеопороз, осложняться низкотравматическими переломами; также возникают неврологические и другие осложнения, способные привести к инвалидизации. Несмотря на крайне редкую встречаемость этих заболеваний, недостаточная осведомленность врачей об особенностях клинической и рентгенологической картины и течения склерозирующих костных дисплазий может повлечь за собой ошибки при постановке диагноза, прежде всего — неверную интерпретацию результатов ДРА. В нашем обзоре ставится задача кратко описать генетически обусловленные патологии, вызывающие чрезмерное повышение МПК, с целью привлечь внимание медицинской аудитории к данной проблеме.

Over the nearly 40-year history of dual-energy X-ray absorptiometry (DXA), the main focus has been on the diagnosis of low bone mineral density (BMD), i.e. osteoporosis, which has been the subject of many domestic and foreign publications. The problems associated with increased BMD and related not only to the difficulty of interpreting the results, but also to further patient management tactics have been covered significantly less. Most often, such cases pass unnoticed in routine clinical practice due to the orphan nature of many diseases leading to the development of pathologically high bone density, and, as a rule, are interpreted as a manifestation of osteoarthritis. Of course, arthrosis, scoliosis and other joint deformities (especially in the spine) are the cause of overestimation of BMD in most clinical situations. However, bone dysplasia, manifested by a diffuse or focal increase in BMD, can, like osteoporosis, be complicated by low-traumatic fractures; neurological and other complications, potentially leading to disability, also occur. Despite the extremely rare occurrence of these diseases, doctors’ insufficient awareness about the peculiarities of the clinical and radiological pattern and the course of sclerosing bone dysplasias can lead to errors in making a diagnosis, and first of all, to incorrect interpretation of the results of DXA. Our review aims to briefly describe genetically determined pathologies that cause an excessive increase in BMD, in order to attract the attention of the medical audience to this problem.

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