地舒单抗治疗伴骨质疏松症和骨折史的 12 岁女性威廉姆斯综合征患者的疗效：病例报告。
Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report.
机构信息
Department of Orthopaedic Surgery, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan.
Department of Human Nutrition, Faculty of Human Nutrition, Tokyo Kasei Gakuin University, 22 Sanban-cho, Chiyoda-ku, Tokyo, 102-8341, Japan.
出版信息
J Med Case Rep. 2021 Dec 15;15(1):594. doi: 10.1186/s13256-021-03175-9.
BACKGROUND
A decrease in bone mineral density is common in patients with Williams syndrome. However, appropriate management for osteoporosis in Williams syndrome patients has not been established. We report the case of a 12-year-old female patient with Williams syndrome, who underwent denosumab treatment for osteoporosis.
CASE PRESENTATION
A 12-year-old Japanese female patient with Williams syndrome was shown to have very low bone mineral density. Bone mineral density was evaluated before treatment and at 5, 9, 17, 23, and 29 months of treatment by dual-energy X-ray absorptiometry. After denosumab therapy for 29 months, lumbar and total hip bone mineral density values had increased by 51.6% and 37.6%, respectively. No new fractures occurred during the observation period.
CONCLUSIONS
To the best of our knowledge, this is the first experience with denosumab treatment in Williams syndrome patients with osteoporosis. Based on our findings, denosumab may be an effective treatment option for Williams syndrome patients with osteoporosis.
背景
骨质疏松症在威廉姆斯综合征患者中很常见。然而，尚未确立针对威廉姆斯综合征患者骨质疏松症的适当治疗方法。我们报告了一例 12 岁女性威廉姆斯综合征患者接受地舒单抗治疗骨质疏松症的病例。
病例介绍
一名 12 岁的日本女性患有威廉姆斯综合征，其骨矿物质密度极低。在治疗前和治疗后 5、9、17、23 和 29 个月，通过双能 X 射线吸收仪评估骨矿物质密度。地舒单抗治疗 29 个月后，腰椎和全髋关节骨矿物质密度值分别增加了 51.6%和 37.6%。在观察期间未发生新的骨折。
结论
据我们所知，这是首例外周型多发性骨软骨瘤病患者应用地舒单抗治疗的经验。基于我们的发现，地舒单抗可能是治疗威廉姆斯综合征骨质疏松症患者的有效治疗选择。
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