摘要
目的回顾性分析1例X连锁低磷性佝偻病患儿幼儿期应用布罗索尤单抗治疗18个月的临床资料,提高临床医生对该药安全性和有效性的认识。方法收集患儿临床资料,经父母同意后行全外显子基因检测确诊为X连锁低磷性佝偻病。给予布罗索尤单抗治疗18个月,每11~14 d检测空腹血磷、血钙、碱性磷酸酶、计算钙磷乘积,每2~6周检测甲状旁腺激素、25-羟维生素D,每3个月测定膝间距、肝肾功能、尿钙/尿肌酐、心电图等,每6个月进行影像学检查,持续对患儿进行随访。结果全外显子测序结果显示患儿X染色体上与内肽酶同源的磷酸盐调节基因(PHEX)存在c.1080_(1)081insCAATGTTA(p.T361Qfs*3)自发杂合移码突变,既往未见报道。患儿应用布罗索尤单抗治疗18个月,生化指标明显改善,佝偻病评分降低,无牙龈脓肿及其他不良反应发生。结论 PHEX基因c.1080_(1)081insCAATGTTA(p.T361Qfs*3)变异为该患儿致病原因,布罗索尤单抗作为X连锁低磷性佝偻病靶向治疗药物,治疗疗效明显。
Objective To retrospectively analyze a pediatric case of X-linked hypophosphatemic rickets treated with Burosumab and improve clinicians′awareness of the safety and effectiveness of the drug.Methods Clinical data of the child were collected.Whole-exon genetic testing after parental consent confirmed X-linked hypophosphatemic rickets.During 18 months of Burosumab treatment,fasting blood phosphorus,alkaline phosphate,calcium,and calcium phosphate product were monitored every 11-14 days.Parathyroid hormone and 25 hydroxyvitamin D were checked every 2-6 weeks,while knee spacing,liver and kidney function,urinary calcium creatinine ratio,electrocardiogram were assessed every 3 months.Radiological imaging was performed every 6 months,with continuous follow-up of the child.Results Whole-exon sequencing results showed a c.1080_1081insCAATGTTA(p.T361Qfs*3)spontaneous heterozygous frameshift mutation in the PHEX gene in the child,which has not been reported previously.After the patient was treated with Burosumab for 18 months,the biochemical indexes were significantly improved,and the rickets score was reduced,without gingival abscess or other adverse events.Conclusion The variant c.1080_1081insCAATGTTA(p.T361Qfs*3)in the PHEX gene was identified as the cause of the patient′s condition.Burosumab,as a targeted therapeutic agent for X-linked hypophosphatemic rickets,showed significant treatment efficacy.
作者
王小红
陈琼
杨海花
王会贞
陈永兴
卫海燕
Wang Xiaohong;Chen Qiong;Yang Haihua;Wang Huizhen;Chen Yongxing;Wei Haiyan(Department of Pediatric Endocrinology and Genetic Metabolism,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital Zhengzhou Children′s Hospital,Zhengzhou 450000,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2024年第1期17-21,共5页
Chinese Journal of Endocrinology and Metabolism
