X连锁低磷酸盐血症(XLH)是遗传起源的低磷酸盐血症相关病的最常见原因,并且与高水平的磷酸性激素成纤维细胞生长因子23(FGF23)有关。除了病和骨软化症,XLH患者有很重的疾病负担,骨关节炎,假性骨折和牙科并发症,所有这些都会导致生活质量下降。本共识声明介绍了欧洲骨质疏松症临床和经济方面协会工作组的成果,骨关节炎和肌肉骨骼疾病,并为XLH的管理提供了强有力的临床证据,强调病人的经验和需求。在成长过程中,磷酸盐补充剂和活性维生素D代谢物(如骨化三醇)的常规治疗可改善生长,改善腿部畸形和牙齿表现,减少疼痛。在无症状的成年人中继续进行常规治疗仍存在争议。一种新的治疗方法是单克隆抗FGF23抗体burosumab。虽然很有希望,需要进一步的研究来澄清其长期疗效,尤其是成年人。鉴于症状和并发症的多样性,跨学科的管理方法至关重要。治疗的重点不仅应放在与XLH和其他FGF23介导的低磷血症综合征相关的身体表现和挑战上,而且对疾病的主要心理和社会影响。
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). In addition to rickets and osteomalacia, patients with XLH have a heavy disease burden with enthesopathies, osteoarthritis, pseudofractures and dental complications, all of which contribute to reduced quality of life. This
Consensus Statement presents the outcomes of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, and provides robust clinical evidence on management in XLH, with an emphasis on patients\' experiences and needs. During growth, conventional treatment with phosphate supplements and active vitamin D metabolites (such as calcitriol) improves growth, ameliorates leg deformities and dental manifestations, and reduces pain. The continuation of conventional treatment in symptom-free adults is still debated. A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. Given the diversity of symptoms and complications, an interdisciplinary approach to management is of paramount importance. The focus of treatment should be not only on the physical manifestations and challenges associated with XLH and other FGF23-mediated hypophosphataemia syndromes, but also on the major psychological and social impact of the disease.