中国实用儿科杂志2024，Vol.39Issue(10)：756-759,4.DOI:10.19538/j.ek2024100609
儿童遗传性低磷血症相关疾病的诊断和治疗
Diagnosis and treatment of inherited hypophosphatemia related diseases in children
张亚男 1邢雨彤 1张会丰1
作者信息
- 1. 河北医科大学第二医院,河北石家庄 050000
- 折叠
摘要
Abstract
In normal condition,because the dietary phosph-orus is rich,unlike calcium deficiency,human has no phosphorus deficiency caused by insufficient intake.Phosphorus deficiency in children is mostly caused by genetic diseases.Inherited hypophosphatemia related diseases in children mainly involve FGF23-mediated hypophosphatemia and non-FGF23-mediated hypophosphatemia.Clinical evalu-ation includes a thorough history investigation,physical examination,laboratory tests,genetic analysis,and imaging,in order to determine the etiology.The wide application of genetic technology has laid the foundation for accurate diagnosis of hypophosphatemia and hypophosphatemic rickets.Fibroblast growth factor 23 monoclonal antibody(Burosumab)has created conditions for targeted therapy of inherited hypophosphatemia related diseases in children.关键词
磷/成纤维细胞生长因子23/低磷血症/佝偻病Key words
phosphorus/fibroblast growth factor 23/hypophosphatemia/rickets分类
医药卫生引用本文复制引用
张亚男,邢雨彤,张会丰..儿童遗传性低磷血症相关疾病的诊断和治疗[J].中国实用儿科杂志,2024,39(10):756-759,4.
