autosomal dominant osteopetrosis

  • 文章类型: Case Reports
    常染色体显性骨症(ADOP)是一种极为罕见的先天性骨疾病。我们报告一例髋关节疾病合并ADOP,通过全髋关节置换术治疗,导致良好的恢复和显著改善患者的日常活动能力。
    Autosomal dominant osteopetrosis (ADOP) is an extremely rare congenital bone disease. We report a case of a hip disorder in combination with ADOP, which was treated by total hip arthroplasty, resulting in a good recovery and a significant improvement in the patient\'s ability to perform daily activities.
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  • 文章类型: Case Reports
    石骨症(OP)是一种罕见的,由破骨细胞功能障碍引起的遗传性骨骼疾病,导致骨吸收失败和骨密度增加。这种致密骨的脆性可能导致骨折的发生率增加。此外,OP患者的手术与技术难度增加和并发症风险增加相关.
    我们报告一例20岁女性常染色体显性遗传OP,发生股骨转子下骨折。骨折采用动力髋螺钉切开复位内固定治疗。尽管经历了技术困难并且发生了术中股骨颈骨折,手术效果令人满意.在术后12个月获得的X光片上可以看到骨折的结合。术后2年,患者完全没有因受伤和治疗而引起的任何并发症。
    切开复位内固定可能是OP患者骨折的有效选择。骨科医生应该意识到,骨的密度和硬度增加增加了术中技术困难的风险,医源性骨折,术后并发症。
    UNASSIGNED: Osteopetrosis (OP) is a rare, heritable skeletal disorder that is caused by osteoclast dysfunction, leading to failure of bone resorption and increased bone density. The fragility of such dense bone may result in an increased incidence of fractures. Furthermore, surgery in patients with OP is associated with increased technical difficulty and a higher risk of complications.
    UNASSIGNED: We report a case of a 20-year-old woman with autosomal dominant OP who developed a subtrochanteric femoral fracture. The fracture was treated by open reduction and internal fixation using a dynamic hip screw. Although technical difficulties were experienced and an intraoperative femoral neck fracture occurred, the surgical outcome was satisfactory. Union of the fractures was visible on radiographs obtained 12 months postoperatively. At 2 years postoperatively, the patient was completely free of any complications resulting from her injury and treatment.
    UNASSIGNED: Open reduction and internal fixation may be an effective option for fractures in patients with OP. Orthopedic surgeons should be aware that the increased density and stiffness of osteopetrotic bone increases the risks of intraoperative technical difficulties, iatrogenic fractures, and postoperative complications.
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