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International Journal of Clinical Research. 2021; 5: (4) ; 10.12208/j.ijcr.20210035 .

Diagnosis, treatment-monitoring and follow-up of X-linked hypophosphatemic rickets in children
儿童X连锁低磷性佝偻病的诊断、治疗及随访进展

作者: 魏丽亚, 巩纯秀*,

国家儿童医学中心首都医科大学附属北京儿童医院内分泌遗传代谢科 北京

*通讯作者: 巩纯秀,单位:国家儿童医学中心首都医科大学附属北京儿童医院内分泌遗传代谢科 北京;

引用本文: 巩纯秀*,. 儿童X连锁低磷性佝偻病的诊断、治疗及随访进展[J]. 国际临床研究杂志, 2021; 5: (4) : 32-38.
Published: 2021/11/12 18:10:06

摘要

X连锁低磷性佝偻病(X-linked Hypophosphatemic Rickets, XLH)是由于PHEX基因失活变异所致的最常见的一种遗传性低磷性佝偻病,以身材矮小、骨骼畸形及步态异常为主要表现。早期诊断、规律治疗及定期随访可以改善患儿的预后。传统的治疗药物为口服磷酸盐制剂及活性维生素D,可显著改善临床症状,但可能会发生不良反应。近些年来靶向药物FGF23单克隆抗体在短期的临床试验中获得了良好的疗效。本文归纳总结传统治疗方法的优势及存在的问题,了解目前新药物的治疗进展,为XLH儿童患者的治疗提供依据。

关键词: 低磷血症性佝偻病,X连锁显性;PHEX磷酸调节中性内肽酶;儿童

Abstract

X-linked Hypophosphatemic Rickets (XLH) is one of the most common hereditary hypophosphatemia caused by PHEX gene inactivation mutation, characterized by short stature, bone deformity and abnormal gait. Early diagnosis, regular treatment and follow-up can improve the prognosis of patients. Conventional treatment with phosphate supplements and vitamin D analogues can significantly improve clinical symptoms, but adverse reactions may occur. In recent years, the humanized monoclonal anti-FGF23 antibody (burosumab) has achieved good efficacy in short-term clinical trials. This paper summarizes the advantages and disadvantages of conventional treatment, understands the progress of burosumab, and provides basis for the treatment of XLH children.

Key words: Hypophosphatemic Rickets, X-linked Dominant; PHEX Phosphate Regulating Neutral Endopeptidase; Child

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