Bregou Bourgeois Aline, Aubry-Rozier Bérengère, Bonafé Luisa, Laurent-Applegate Lee, Pioletti Dominique P, Zambelli Pierre-Yves
Unité Pédiatrique de Chirurgie Orthopédique et raumatologique UPCOT, Hôpital de l'Enfance, Lausanne University Hospital, Switzerland.
Rheumatology and Centre of Bone Diseases, Lausanne University Hospital, Switzerland.
Swiss Med Wkly. 2016 Jun 20;146:w14322. doi: 10.4414/smw.2016.14322. eCollection 2016.
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidisciplinary management improves quality of life for patients with osteogenesis imperfecta. It consists of physical therapy, medical treatment and orthopaedic surgery as necessary. Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Other more recent drug therapies include teriparatide and denosumab. All these therapies target the symptoms and have effects on the mechanical properties of bone due to modification of bone remodelling, therefore influencing skeletal outcome and orthopaedic surgery. Innovative therapies, such as progenitor and mesenchymal stem cell transplantation, targeting the specific altered pathway rather than the symptoms, are in the process of development.
成骨不全症是一种遗传性结缔组织疾病，具有广泛的表型和分子异质性。与分子异常相关的一个常见问题是骨基质合成和内环境稳定受到干扰，从而导致骨脆性增加。在生命的早期阶段，这可能导致多发性骨折和进行性骨畸形，包括长骨弯曲和脊柱侧弯。多学科管理可改善成骨不全症患者的生活质量。它包括物理治疗、药物治疗以及必要时的矫形外科手术。药物治疗包括骨重塑药物治疗。双膦酸盐广泛用于从婴儿期到成年期的中重度成骨不全症的治疗。其他更新的药物疗法包括特立帕肽和地诺单抗。所有这些疗法都针对症状，并且由于骨重塑的改变而对骨的力学性能产生影响，因此会影响骨骼结局和矫形外科手术。针对特定改变途径而非症状的创新疗法，如祖细胞和间充质干细胞移植，正在研发中。
