X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert. Historically, these patients were treated with frequent doses of oral phosphate supplements and active vitamin D, which was of limited efficiency and associated with adverse effects. However, the management of XLH has evolved in the past few years owing to the availability of burosumab, a fully humanized monoclonal antibody that neutralizes circulating FGF23. Here, we provide updated clinical practice recommendations for the diagnosis and management of XLH to improve outcomes and quality of life in these patients.

X连锁低磷血症（XLH）是一种罕见的代谢性骨骼疾病，由PHEX基因的致病变体引起，该基因主要在成骨细胞、骨细胞和颌骨细胞中表达。XLH的特征是骨源性磷酸盐激素成纤维细胞生长因子23（FGF23）的合成增加，从而导致肾磷酸盐耗竭，继而出现低磷血症、佝偻病、骨软化症、身材矮小不成比例、口腔表现、假性骨折、颅骨发育不良、内翻和骨关节炎。XLH患者应在骨代谢专家的组织下接受多学科治疗。一直以来，这些患者都接受频繁口服磷酸盐补充剂和活性维生素D的治疗，但效果有限，且存在不良反应。然而，由于布罗苏单抗的出现，XLH的治疗方法在过去几年中发生了变化，布罗苏单抗是一种能中和循环中FGF23的全人源化单克隆抗体。在此，我们将为XLH的诊断和治疗提供最新的临床实践建议，以改善这些患者的预后和生活质量。