X-连锁低磷性佝偻病诊疗新进展

doi:10.12372/jcp.2026.25e1298

摘要/Abstract

摘要：

X-连锁低磷性佝偻病（XLH）是一种由于PHEX基因致病变异导致成纤维细胞生长因子23（FGF23）水平升高，抑制肾脏对磷酸盐的重吸收，引起的以低磷血症为特征的骨骼矿化障碍性疾病。XLH在儿童表现为以下肢为主的骨骼畸形、生长缓慢、身材矮小、骨痛和关节疼痛，以及牙脓肿等。传统的XLH治疗方案是中性磷酸盐联合骨化三醇。2018年，布罗索尤单抗开始被用于治疗XLH患者。布罗索尤单抗可靶向结合并抑制FGF23的活性，增加肾脏对磷的重吸收，减少尿磷排泄，促进肠磷吸收，提升患者血磷水平改善骨骼矿化功能，已逐渐成为治疗XLH的一线用药。然而，XLH目前尚无法根治，现有治疗方案难以保持正常血磷水平，患儿即使经治疗后终身高依然普遍偏矮。此外，由于价格昂贵等诸多问题，布罗索尤单抗在国内应用较少，临床医师对XLH的诊治进展了解有限。目前，一些以FGFR、α-Klotho等为靶点，旨在抑制高FGF23水平作用的药物正在研发中，有望为治疗XLH提供新的治疗方案。本文综述XLH诊治方面的前沿进展，以帮助读者把握该领域的现状和发展方向。

关键词: X-连锁低磷性佝偻病, 治疗进展, 布罗索尤单抗

Abstract:

X-linked hypophosphatemic rickets (XLH) is a skeletal mineralization disorder characterized by hypophosphatemia, caused by pathogenic variants in the PHEX gene that lead to elevated levels of fibroblast growth factor 23 (FGF23), which in turn inhibits renal phosphate reabsorption. In children, XLH primarily manifests as lower limb-predominant skeletal deformities, growth retardation, short stature, bone and joint pain, and dental abscesses.The traditional treatment regimen for XLH consists of neutral phosphate combined with calcitriol. In 2018, burosumab was approved for the treatment of patients with XLH. Burosumab targets and binds to FGF23 to inhibit its activity, increases renal phosphate reabsorption, reduces urinary phosphate excretion, promotes intestinal phosphate absorption, elevates serum phosphorus levels, and improves skeletal mineralization function. It has gradually become the first-line treatment for XLH. However, XLH is currently incurable, and existing treatment regimens struggle to maintain normal serum phosphorus levels. Even after treatment, patients generally still have a shorter final height. Additionally, due to various issues including its high cost, burosumab is rarely used in China, and clinicians have limited understanding of the advances in the diagnosis and treatment of XLH. Currently, several drugs targeting FGFR, α-Klotho, and other molecules, that aim to inhibit the effects of elevated FGF23 levels, are under development and are expected to provide new therapeutic options for XLH. This article reviews the cutting-edge advances in the diagnosis and treatment of XLH to help readers grasp the current status and future directions of this field.

Key words: X-linked hypophatemia rickets, treatment progress, burosumab

中图分类号:

程于恒, 徐子朝, 陈颖. X-连锁低磷性佝偻病诊疗新进展[J]. 临床儿科杂志, 2026, 44(8): 753-760.

CHENG Yuheng, XU Zizhao, CHEN Ying. Recent advances in the diagnosis and treatment of X-linked hypophosphatemic rickets[J]. Journal of Clinical Pediatrics, 2026, 44(8): 753-760.

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