Kobayashi Tsukasa, Nakamura Yukio, Suzuki Takako, Yamaguchi Tomomi, Takeda Ryojun, Takagi Masaki, Hasegawa Tomonobu, Kosho Tomoki, Kato Hiroyuki
Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Nagano 390-8621, Japan.
Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Nagano 390-8621, Japan.
J Clin Med. 2018 Nov 24;7(12):479. doi: 10.3390/jcm7120479.
Osteogenesis imperfecta (OI) is a connective tissue disorder that is characterized by low bone density leading to recurrent fractures. The efficacy of the anti-resorption drug denosumab for OI with osteoporosis is still largely unknown. We herein describe the clinical outcomes of eight osteoporotic cases of OI to examine the effects and safety of denosumab. This retrospective, consecutive case series included eight patients respectively aged 42, 40, 14, 22, 3, 51, 37, and 9 years. We measured the bone mineral density (BMD) of the lumbar 1⁻4 spine (L-BMD) and bilateral hips (H-BMD), bone-specific alkaline phosphatase, urinary type I collagen amino-terminal telopeptide, and tartrate-resistant acid phosphatase 5b before and during denosumab therapy. Despite multiple pretreatment fractures in the cohort, no fractures or severe side effects, such as hypocalcemia, were observed during the observational period apart from a fracture in a young pediatric girl. Both L-BMD and H-BMD were increased by denosumab in seven of eight cases. Bone turnover markers were inhibited in most cases by denosumab therapy. Denosumab treatment could generally raise BMD without any adverse effects. The agent therefore represents a good therapeutic option for OI with osteoporosis.
成骨不全症（OI）是一种结缔组织疾病，其特征是骨密度低导致反复骨折。抗吸收药物地诺单抗治疗患有骨质疏松症的OI的疗效在很大程度上仍不清楚。我们在此描述8例OI骨质疏松症病例的临床结果，以研究地诺单抗的疗效和安全性。这个回顾性的连续病例系列包括8名患者，年龄分别为42岁、40岁、14岁、22岁、3岁、51岁、37岁和9岁。我们在使用地诺单抗治疗前和治疗期间测量了第1至4腰椎（L-BMD）和双侧髋部（H-BMD）的骨矿物质密度、骨特异性碱性磷酸酶、尿I型胶原氨基末端肽和抗酒石酸酸性磷酸酶5b。尽管该队列中有多例治疗前骨折，但在观察期内，除一名年轻女童发生骨折外，未观察到骨折或严重副作用，如低钙血症。8例中有7例的L-BMD和H-BMD均因使用地诺单抗而升高。地诺单抗治疗在大多数情况下抑制了骨转换标志物。地诺单抗治疗通常可以提高骨密度且无任何不良反应。因此，该药物是患有骨质疏松症的OI的一个良好治疗选择。
