X-连锁低磷血症的诊疗进展  

Diagnosis and treatment of X-linked hypophosphatemia

作　　者：苏法铭 陈晓铭 Su Faming;Chen Xiaoming(Department of Endocrinology,The Affiliated Hospital of Guangdong Medical University,Zhanjiang 524001,China)

机构地区：[1]广东医科大学附属医院内分泌科,湛江524001

出　　处：《国际内分泌代谢杂志》2020年第3期201-205,共5页International Journal of Endocrinology and Metabolism

基　　金：湛江市财政资金科技专项竞争性分配项目(2013A304)。

摘　　要：X-连锁低磷血症是最常见的遗传性低磷血症,致病基因是位于X染色体上与内肽酶同源的磷酸盐调节基因(PHEX基因),呈显性遗传。PHEX基因的缺陷使血成纤维细胞生长因子(FGF)23水平上调,继而近端肾小管上皮细胞的膜结合钠-磷协同转运体NaPi-Ⅱa和NaPi-Ⅱc发生降解以及1α-羟化酶表达被抑制、24-羟化酶活性被增强,最终导致临床表现为肾磷酸盐丢失、维生素D代谢及骨矿化异常的佝偻病/骨软化症。诊断该病有赖于临床症状、影像学检查及实验室结果的综合判断,确诊该病后应尽早且终身予以磷酸盐合剂及骨化三醇替代治疗,必要时加用重组人生长激素改善身高,新药抗FGF23单克隆抗体Burosumab的出现具有较好的应用前景与研究价值。X-linked hypophosphatemia is the most common hereditary hypophosphatemia.The pathogenic gene is the PHEX located on the X chromosome,which is inherited in dominant form.The defect of PHEX up-regulates the blood fibroblast growth factor(FGF)23 level,resulting in the degradation of Na/Pi cotransporters NaPi-Ⅱa and NaPi-Ⅱc,inhibition of 1α-hydroxylase expression,and enhancement of 24-hydroxylase activity in proximal renal tubular epithelial cells,leading to clinical manifestations of renal phosphate loss,abnormal vitamin D metabolism and bone mineralization of rickets/osteomalacia.The diagnosis of the disease depends on the comprehensive judgment of clinical symptoms,imaging examination and laboratory results.After the diagnosis of the disease,phosphate mixture and ossified triol replacement therapy should be initiated as soon as possible and used lifelong,when necessary to add recombinant human growth hormone to improve the height.The emergence of Burosumab against FGF23 monoclonal antibody has good application prospect and research value.

关 键 词：X-连锁低磷血症 PHEX 诊断 治疗 

分 类 号：R591.1[医药卫生—内科学]