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.

Key words: phosphorus, fibroblast growth factor 23, hypophosphatemia, rickets

摘要： 正常情况下，由于膳食磷丰富，机体不会像缺钙那样出现因摄入量不足而缺乏磷。儿童磷缺乏大多是遗传因素所致。儿童遗传性低磷血症相关疾病主要涉及了成纤维细胞生长因子23（FGF23）介导的低磷血症和非FGF23介导的低磷血症。临床评估包括全面的病史询问、体格检查、实验室检测、遗传分析和影像学检查，以确定病因。伴随基因检测技术的普及，为低磷血症及低磷性佝偻病精准诊断奠定了基础。FGF23单抗（布罗索尤单抗）为儿童遗传性低磷性相关疾病的靶向治疗创造了条件。

关键词: 磷, 成纤维细胞生长因子23, 低磷血症, 佝偻病