摘要
目的评估X连锁低磷性佝偻病(XLH)患儿布罗索尤单抗治疗的有效性及安全性。方法回顾性病例总结。以2022年7月至2023年12月首都医科大学附属北京儿童医院和山东第一医院大学附属省立医院收治的4例布罗索尤单抗治疗的XLH患儿为研究对象,收集其临床特征、生化指标、影像学资料、治疗及随访(每3个月随访1次,截至2023年12月)情况,分析患儿治疗后的临床转归及药物不良反应。结果4例患儿中男3例、女1例,治疗前年龄分别为6.7、2.9、2.1、2.3岁。其中3例曾使用磷酸盐合剂及活性维生素D治疗,但患儿的步态异常、双下肢弯曲改善不明显,活动性佝偻病影像学变化未修复。4例患儿布罗索尤单抗起始剂量为0.8 mg/kg,每2周皮下注射1次,治疗周期为0.8~1.3年。4例患儿治疗前的空腹血清磷和肾磷阈分别为0.72、0.95、0.81、0.66 mmol/L和0.67、0.85、0.87、0.61 mmol/L,末次随访时血清磷和肾磷阈均明显升高(分别为0.96、1.09、1.09、0.90 mmol/L,0.85、0.79、1.03、0.98 mmol/L),其中仅例2肾磷阈治疗3个月时达到了正常值(1.17 mmol/L),其余均未达到同年龄儿童的正常范围。经过治疗,全部患儿的碱性磷酸酶水平均逐渐下降(分别为461、240、423、237 U/L),例2、例4末次访视时降至正常。例4治疗9个月时甲状旁腺激素水平轻度升高(81.0 ng/L),其余3例未见异常。例1行6 min步行试验,步行距离从245 m提高至570 m。4例患儿步态异常、双下肢弯曲及佝偻病严重程度均得到改善,未见肾脏钙质沉积、局部皮肤注射反应、高磷血症、维生素D缺乏等药物不良反应。结论布罗索尤单抗治疗可改善XLH患儿临床症状,尚未见药物不良反应。
Objective To evaluate the effectiveness and safety of treatment with Burosumab in pediatric X-linked hypophosphatemia(XLH)patients.Methods In this retrospective case study,4 children with pediatric XLH,who were treated with Burosumab in Beijing Children′s Hospital,Capital Medical University and Shandong Provincial Hospital affiliated to Shandong First Medical University from July 2022 to December 2023,were selected as the study objects.We collected and analyzed their clinical characteristics,biochemical indicators,imaging results,and treatment.The children were followed up every 3 months until December 2023,and the clinical outcomes and adverse drug reactions after treatment were evaluated.Results Of the 4 patients,3 were males and 1 was female;they were aged 6.7,2.9,2.1,and 2.3 years,respectively.Three patients had previously received treatment with phosphate supplements and active vitamins,but their wadding gait and lower limb deformities did not improve significantly,neither did their imaging changes of active richets.The initial dose of Burosumab in the 4 patients was 0.8 mg/kg,administered subcutaneously every 2 weeks,with a treatment course of 0.8-1.3 years.The fasting serum phosphorus and tubular maximum reabsorption of phosphate/glomerular filtration rate(TmP/GFR)of the 4 patients before treatment were 0.72,0.95,0.81,0.66 mmol/L and 0.67,0.85,0.87,0.61 mmol/L,respectively.At the last follow-up,the fasting serum phosphorus and TmP/GFR levels were significantly increased(0.96,1.09,1.09,0.90 mmol/L,and 0.85,0.79,1.03,0.98 mmol/L,respectively).Among them,only the TmP/GFR level(1.17 mmol/L)in case 2 achieved normal values at 3 months post-therapy,while the rest did not reach the normal range for children of the same age.After treatment,the alkaline phosphatase levels of all patients gradually decreased(the values were 461,240,423,and 237 U/L,respectively),and the ALP levels in cases 2 and 4 returned to normal at the last visit.Case 4 showed a slight increase in parathyroid hormone(PTH)levels after 9 months o
作者
魏丽亚
孙妍
巩纯秀
曹冰燕
Wei Liya;Sun Yan;Gong Chunxiu;Cao Bingyan(Department of Endocrinology,Genetics and Metabolism,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China;Department of Pediatric,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250021,China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2024年第7期681-685,共5页
Chinese Journal of Pediatrics
