摘要X-连锁低血磷性佝偻病是一种以肾脏排磷增多引起低磷血症为特征的骨代谢障碍性疾病。该病主要临床表现为骨骼发育异常、畸形、身材矮小、骨骼疼痛及牙周脓肿等，是一种致残率很高的疾病，给社会和家庭带来巨大负担。本综述总结了PHEX、FGF23等相关基因突变互相作用机制，这些突变如何对生化因子产生影响以及磷在人体代谢中的相关机制。

abstractsX-linked hypophosphatemic rickets is a bone metabolic disorder characterized by hypophosphatemia caused by increased phosphorus excretion from the kidneys. The main clinical manifestations of the disease are abnormal bone development, deformity, short stature, bone pain, and periodontal abscess. It is a disease with a high disability rate and a huge burden on society and families. This review summarizes the interaction mechanism of related gene mutations such as PHEX, FGF23, how these mutations affect biochemical factors and the related mechanism of phosphorus in human metabolism.