Uehara Masashi, Nakamura Yukio, Takahashi Jun, Suzuki Takako, Iijima Mari, Arakawa Yuko, Ida Koichi, Kosho Tomoki, Kato Hiroyuki
Department of Orthopaedic Surgery, Shinshu University School of Medicine,
Department of Clinical Nutrition, Shinshu University School of Medicine.
Ther Clin Risk Manag. 2019 Feb 25;15:303-307. doi: 10.2147/TCRM.S186855. eCollection 2019.
Appropriate management for osteoporosis in adult patients with Prader-Willi syndrome (PWS) has not been established. We report on a 21-year-old woman with PWS, who underwent denosumab treatment for osteoporosis. She presented with fractures and was shown to have very low bone mineral density (BMD), while she had been treated with supplementation of growth hormone for 7-14 years of age and estrogen from 15 years of age. BMD was monitored in the total hip region by dual-energy X-ray absorptiometry. Laboratory tests included bone-specific alkaline phosphatase, urinary type I collagen amino-terminal telopeptide, tartrate-resistant acid phosphatase 5b, 1-alpha, 25-dihydroxyvitamin D3, and parathyroid hormone. BMD and laboratory data were evaluated before and at 4, 8, and 13 months of treatment. After 13 months of denosumab therapy, BMD increased by 4.5%, and bone turnover markers notably improved. No fractures occurred. To the best of our knowledge, this is the first report to describe the clinical outcomes of denosumab treatment for osteoporosis in patients with PWS. Based on our findings, denosumab could represent an effective treatment option for osteoporosis in PWS patients.
针对普拉德-威利综合征（PWS）成年患者骨质疏松症的恰当管理方法尚未确立。我们报告了一名患有PWS的21岁女性，她接受了地诺单抗治疗骨质疏松症。她出现了骨折，骨密度（BMD）极低，而她在15岁时开始补充雌激素，在7至14岁时接受了生长激素治疗。通过双能X线吸收法监测全髋区域的骨密度。实验室检查包括骨特异性碱性磷酸酶、尿I型胶原氨基末端肽、抗酒石酸酸性磷酸酶5b、1-α,25-二羟维生素D3和甲状旁腺激素。在治疗前以及治疗4、8和13个月时评估骨密度和实验室数据。地诺单抗治疗13个月后，骨密度增加了4.5%，骨转换标志物显著改善。未发生骨折。据我们所知，这是第一份描述地诺单抗治疗PWS患者骨质疏松症临床结果的报告。基于我们的研究结果，地诺单抗可能是PWS患者骨质疏松症的一种有效治疗选择。
