Department of Orthopedic Surgery and Traumatology, Reference Center of Constitutional Bone Diseases, Lariboisière Teaching Hospital, Paris, University of Paris-Cité, Paris, France.
Calcif Tissue Int. 2024 Dec;115(6):976-988. doi: 10.1007/s00223-024-01306-0. Epub 2024 Nov 16.
Osteogenesis imperfecta is a genetic disorder, mainly characterized by bone fragility. In adult with osteogenesis imperfecta, surgical treatment may be indicated as an emergency procedure in the event of a fracture, or as a scheduled procedure in case of patient functional impairment due to many causes, such as persistent pain, complex bone deformities, and degenerative arthropathies. In all cases, a multidisciplinary approach is recommended. It is essential to consider the patient's characteristics and expectations regarding treatment, as well as the local conditions, which may be complex due to the poor bone quality, bone deformity, and the presence of hardware implanted during childhood. The procedure can be very complex and challenging and each patient is a unique case. An accurate preoperative planning is mandatory to select the appropriate surgical technique, which can be either conservative or prosthetic, and to evaluate its feasibility and the risk-benefit ratio. The aim is to improve the patient's quality of life and autonomy as long as possible.
成骨不全症是一种遗传性疾病,主要表现为骨骼脆弱。对于成人成骨不全症患者,在骨折等紧急情况下可能需要进行手术治疗,或者由于多种原因(如持续疼痛、复杂的骨骼畸形和退行性关节病)导致患者功能受损时也需要进行手术治疗。在所有情况下,都建议采用多学科方法。必须考虑患者的特征和治疗预期,以及当地情况,由于骨骼质量差、骨骼畸形和儿童时期植入的硬件的存在,当地情况可能会很复杂。手术过程可能非常复杂和具有挑战性,每个患者都是一个独特的病例。必须进行准确的术前规划,以选择合适的手术技术,这些技术可以是保守的,也可以是假体的,并评估其可行性和风险效益比。目的是尽可能提高患者的生活质量和自主性。