X-连锁低血磷性佝偻病发病遗传机制  

The pathogenetic and genetic mechanism of X-linked hypophosphatemic rickets

作　　者：殷常瑜 郭伟韬 王怀波 何生 Yin Changyu;Guo Weitao;Wang Huaibo;He Sheng(The Second Affiliated Hospital of Guangdong Medical University,Zhanjiang 524002,China)

机构地区：[1]广东医科大学附属第二医院,湛江524002

出　　处：《国际医药卫生导报》2020年第7期916-921,共6页International Medicine and Health Guidance News

基　　金：2019年度广东医科大学科研基金;湛江市非资助科技攻关专题(180608151684272)。

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。X-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.

关 键 词：X-连锁低血磷性佝偻病 PHEX FGF23 

分 类 号：R589[医药卫生—内分泌]