中华骨质疏松和骨矿盐疾病杂志2024，Vol.17Issue(2)：161-167,7.DOI:10.3969/j.issn.1674-2591.2024.02.010
X连锁显性低血磷性佝偻病/骨软化的治疗
Treatment for X-linked hypophosphatemic rickets/osteomalacia
摘要
Abstract
X-linked hypophosphatemic rickets/osteomalacia(XLH)is caused by the mutation in gene encoding phosphate regulating endopeptidase homolog X-linked(PHEX),which is the most common type of hereditary hypophos-phatemia.The traditional therapy,which consists of oral supplemental phosphate and active vitamin D,has been the only remedy for XLH.In 2018,burosumab,a kind of fibroblast growth factors 23(FGF23)monoclonal antibody,received ap-proval for children older than 1 year old and adults with XLH.Its efficacy is significantly superior to traditional therapy.Other drugs targeting the FGF23 pathway,including FGF23/FGFR/αKlotho inhibitor,FGF23 c-tail,and inhibitor of FGF23 downstream pathway,have been proven to rectify hypophosphatemia and improve bone mineralization in the mouse model with PHEX inactivating mutation(Hyp mouse),indicating to be promising therapeutics for XLH.关键词
X连锁低血磷性佝偻病/骨软化/PHEX基因/布罗索尤单抗Key words
X-linked hypophosphatemic rickets/osteomalacia/PHEX/burosumab分类
医药卫生引用本文复制引用
邓思琪,章振林,岳华..X连锁显性低血磷性佝偻病/骨软化的治疗[J].中华骨质疏松和骨矿盐疾病杂志,2024,17(2):161-167,7.基金项目
国家自然科学基金(82270932,81974126,81770874) （82270932,81974126,81770874）
