Efficacy of denosumab therapy for a 12-year-old female patient with Williams syndrome with osteoporosis and history of fractures: a case report

被引:1
作者
Uehara, Masashi [1 ]
Nakamura, Yukio [1 ]
Suzuki, Takako [2 ]
Sakai, Noriko [3 ]
Takahashi, Jun [1 ]
机构
[1] Shinshu Univ, Dept Orthopaed Surg, Sch Med, 3-1-1 Asahi, Matsumoto, Nagano 3908621, Japan
[2] Tokyo Kasei Gakuin Univ, Fac Human Nutr, Dept Human Nutr, Chiyoda Ku, 22 Sanban Cho, Tokyo 1028341, Japan
[3] Nagano Childrens Hosp, Dept Orthopaed Surg, 3100Toyoshina, Azumino, Nagano 3998288, Japan
关键词
Bone mineral density; Denosumab; Fracture; Williams syndrome; Osteoporosis; HYPERCALCEMIA;
D O I
10.1186/s13256-021-03175-9
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:6
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