布罗索尤单抗治疗儿童 McCune-Albright 综合征伴纤维结构不良 1 例报告
Improvement of Fibrous Dysplasia After Burosumab Therapy in a Pediatric Patient with McCune-Albright Syndrome: A Case Report.
机构信息
Department of Orthopaedic Surgery, Aichi Children's Health and Medical Center, Obu, Aichi, Japan.
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, Aichi, Japan.
出版信息
JBJS Case Connect. 2024 Sep 20;14(3). doi: e24.00279. eCollection 2024 Jul 1.
CASE
Burosumab is a novel drug developed to treat hereditary fibroblast growth factor 23 (FGF23)-related disorders. We report the case of an 11-year-old girl with McCune-Albright syndrome (MAS) who sustained hypophosphatemia due to excess FGF23 and multiple bone lesions of fibrous dysplasia (FD). Burosumab therapy markedly improved not only the biochemical parameters but also the radiographic appearance of the FD lesions and clinical symptoms.
CONCLUSION
This is the first report to demonstrate that burosumab is effective in improving FD lesions in a patient with MAS.
病例
布罗索尤单抗是一种新型药物，旨在治疗成纤维细胞生长因子 23（FGF23）相关遗传性疾病。我们报告了一例 11 岁的 McCune-Albright 综合征（MAS）女孩病例，该患者因 FGF23 过多和多发性纤维发育不良（FD）的骨病变而发生低磷血症。布罗索尤单抗治疗不仅显著改善了生化参数，而且还改善了 FD 病变的影像学表现和临床症状。
结论
这是首例报告表明布罗索尤单抗可有效改善 MAS 患者的 FD 病变。
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