目的 总结布罗索尤单抗治疗X连锁低磷性佝偻病（XLH）的疗效和安全性。方法 回顾性分析2022年8月于内分泌代谢科住院，采用布罗索尤单抗治疗因PHEX基因变异导致XLH的1例患儿的临床资料，并进行相关文献复习。结果 患儿，男，5岁11月龄，因“双下肢畸形3年，伴骨痛2个月”就诊。入院时血磷值0.82 mmol/L，骨骼X线检查示长骨干骺端杯口状、毛刷样改变，诸骨改变符合佝偻病表现。患儿母亲存在身材矮小、双下肢畸形伴骨痛症状。基因检测发现患儿PHEX基因变异（c.1282C>T，p.Gln428*，来源于母亲）。予以布罗索尤单抗治疗后，患儿血磷值较用药前升高，碱性磷酸酶及甲状旁腺激素水平降低，生长速率较前增快，骨痛好转，活动耐量提高，骨骼畸形程度较前明显好转，且未发生药物相关不良反应。结论 布罗索尤单抗用于治疗因PHEX基因变异导致XLH的患儿，可改善多项指标且安全性良好。

Objective To summarize the efficacy and safety of burosumab in the treatment of X-linked hypophosphatemic rickets (XLH). Methods The clinical data of a child hospitalized in the Department of Endocrinology and Metabolism in August 2022 who was treated with burosumab for XLH due to PHEX gene variation were retrospectively analyzed, and the relevant literature was reviewed. Results A 5 years and 11 months old boy was treated for "malformation of both lower limbs for 3 years with bone pain for 2 months". The blood phosphorus value at admission was 0.82 mmol/L. The X-ray examination of the bones showed cup-shaped and brush-like changes at the epiphysis of the long bones, and the changes in all the bones were consistent with the symptoms of rickets. The mother of the child had symptoms of short stature, malformation of both lower limbs with bone pain. The genetic testing found a variation of c.1282C > T, p.Gln428* in the PHEX gene in the child, which came from his mother. After treatment with burosumab, blood phosphorus value was increased, alkaline phosphatase and parathyroid hormone levels were decreased, growth rate was increased, bone pain was improved, activity tolerance was improved, bone deformities were significantly improved, and no drug-related adverse reactions occurred. Conclusions Burosumab can be used for the treatment of children with XLH due to PHEX gene variation, and it can improve several indicators and has good safety.