Current approach to diagnosis and treatment of children with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone fragility and long bone deformities. Approximately 85% of OI cases are caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2), which affect the quantity or structure of collagen. The remaining percentage of cases is caused by mutation in the proteins responsible for posttranslational modification, processing and crosslinking of collagen, bone mineralization, and osteoblast differentiation. In the past decade, new recessive, dominant, and X-linked inheritance. As a result, new types of OI were added to the Sillence classification, and a new genetic classification consisting of XVIII types is formed. Treatment of patients with OI is a complex task which requires a multidisciplinary care. Pharmacological treatment is based on bisphosphonate treatment, which increases the bone mineral density. In this article, we will describe other approaches in which the effectiveness is studied. Surgical treatment of the fractures and deformities of the extremities showed a positive effect on the patients’ quality of life, despite existing complications. There are a lot of debates about the choice between telescopic and non-telescopic fixators. Rehabilitation plays huge role in the recovery process after fracture and surgeries. © 2019, Eco-Vector LLC. All rights reserved.

Авторы
Редакторы
-
Издательство
Eco-Vector LLC
Номер выпуска
2
Язык
Русский
Страницы
87-102
Статус
Опубликовано
Подразделение
-
Номер
-
Том
7
Год
2019
Организации
  • 1 Department of Traumatology and Orthopaedics, Peoples’ Friendship, University of Russia, Orthopaedic Trauma Surgeon of European Clinic of Sports Traumatology and Orthopaedics (ECSTO), Moscow, Russian Federation
  • 2 European Clinic of Sports Traumatology and Orthopaedics (ECSTO), Department of Traumatology and Orthopaedics, Peoples’ Friendship, University of Russia, Moscow, Russian Federation
Ключевые слова
Bisphosphonates; Bone mineral density; Collagen type 1; Deformity; Fracture; Multidisciplinary approach; Osteogenesis imperfecta; Osteotomy; Rehabilitation; Telescopic nail
Дата создания
24.12.2019
Дата изменения
24.12.2019
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/55285/