布罗索尤单抗治疗儿童 X 连锁低磷血症。
Burosumab for Pediatric X-Linked Hypophosphatemia.
机构信息
Department of Medicine, Indiana University School of Medicine, 1120 West Michigan Street, CL 365, Indianapolis, IN, 46202-5111, USA.
Department of Pediatrics, Indiana University School of Medicine, 1120 West Michigan Street, CL 365, Indianapolis, IN, 46202-5111, USA.
出版信息
Curr Osteoporos Rep. 2021 Jun;19(3):271-277. doi: 10.1007/s11914-021-00669-9. Epub 2021 May 10.
Abstract
PURPOSE OF REVIEW
X-Linked hypophosphatemia (XLH) is the most common genetic cause of rickets. This review describes advances in the management of XLH using burosumab which was FDA approved for treating children with XLH in 2018.
RECENT FINDINGS
Elevated FGF23 in XLH leads to systemic hypophosphatemia and several musculoskeletal manifestations, including rachitic bone deformities, impaired growth, dental abscesses, insufficiency fractures, osteoarthritis, and enthesopathy, with lifelong consequences for physical function and quality of life. Burosumab treatment has demonstrated clinical improvement of rickets and growth in children, including during a randomized controlled trial compared with conventional therapy. Burosumab also improved pseudofracture healing in adults. Burosumab led to greater improvement in rickets and growth than conventional therapy. However, many questions remain regarding the impact of burosumab on several outcomes, including final height, nephrocalcinosis, dental disease, enthesopathy, and surgical interventions.
摘要
目的综述
X 连锁低磷血症（XLH）是导致佝偻病最常见的遗传性原因。本综述描述了使用布罗索尤单抗治疗 XLH 的进展，该药于 2018 年获得美国食品药品监督管理局批准用于治疗 XLH 儿童。
最新发现
XLH 中升高的 FGF23 导致全身低磷血症和几种肌肉骨骼表现，包括佝偻病性骨畸形、生长受损、牙周脓肿、骨不连、骨关节炎和腱病，对身体功能和生活质量产生终身影响。布罗索尤单抗治疗已证明可改善儿童的佝偻病和生长，包括与常规治疗相比的随机对照试验。布罗索尤单抗还可改善成人假性骨折的愈合。布罗索尤单抗在改善佝偻病和生长方面的效果优于常规治疗。然而，关于布罗索尤单抗对包括最终身高、肾钙质沉着症、牙科疾病、腱病和手术干预在内的多种结局的影响，仍存在许多问题。
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3
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J Dent Res. 2020 Apr;99(4):419-428. doi: 10.1177/0022034520901719. Epub 2020 Jan 24.
4
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7
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