Khan Aliya A, Ali Dalal S, Appelman-Dijkstra Natasha M, Carpenter Thomas O, Chaussain Catherine, Imel Erik A, Jan de Beur Suzanne M, Florenzano Pablo, Abu Alrob Hajar, Aldabagh Rana, Alexander R Todd, Alsarraf Farah, Beck-Nielsen Signe Sparre, Biosse-Duplan Martin, Cohen-Solal Martine, Crowley Rachel K, Dandurand Karel, Filler Guido, Friedlander Lisa, Fukumoto Seiji, Gagnon Claudia, Goodyer Paul, Grasemann Corinna, Grimbly Chelsey, Hussein Salma, Javaid Muhammad K, Khan Sarah, Khan Aneal, Lehman Anna, Lems Willem F, Lewiecki E Michael, McDonnell Ciara, Mirza Reza D, Morgante Emmett, Morrison Archibald, Portale Anthony A, Rhee Yumie, Rush Eric T, Siggelkow Heide, Tetradis Sotirios, Tosi Laura, Ward Leanne M, Guyatt Gordon, Brandi Maria Luisa
Division of Endocrinology and Metabolism, McMaster University, Hamilton, ON L8S 4L8, Canada.
Department of Internal Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden 2300 ZA, the Netherlands.
J Clin Endocrinol Metab. 2025 Jul 15;110(8):2353-2370. doi: 10.1210/clinem/dgaf170.
An international working group (IWG) consisting of experts in X-linked hypophosphatemia (XLH) developed global guidelines providing a comprehensive, evidence-based approach to XLH diagnosis, management, and monitoring.
The IWG, consisting of 43 members as well as methodologists and a patient partner, conducted 2 systematic reviews (SRs) and narrative reviews to address key areas. The SRs addressed the impact of burosumab compared to conventional therapy (phosphate and active vitamin D) or no therapy on patient-important outcomes in adults. They also evaluated conventional therapy compared to no therapy. GRADE methodology was applied to evaluate the certainty of evidence. Non-GRADED recommendations were made in the presence of insufficient evidence to conduct SRs. These guidelines have been reviewed and endorsed by several medical and patient societies and organizations.
The diagnosis of XLH is based on integrating clinical evaluation, laboratory findings confirming renal phosphate wasting (following exclusion of conditions mimicking XLH), and skeletal imaging. Fibroblast growth factor 23 measurement and DNA analysis are of value in the diagnosis, if available. Pathogenic or likely pathogenic variants in the PHEX gene are confirmatory but not necessary for the diagnosis. Management requires a multidisciplinary team knowledgeable and experienced in XLH. Effective medical therapy with burosumab can improve fracture and pseudofracture healing.
In adults with XLH and fractures or pseudofractures, burosumab is recommended over no therapy (strong recommendation, GRADEd). Additionally, burosumab is suggested as the preferred treatment compared to conventional therapy (conditional recommendation, GRADEd) in the absence of fractures or pseudofractures. If burosumab is not available, symptomatic adults should be treated with conventional therapy (Non-GRADEd recommendation).
一个由X连锁低磷血症（XLH）专家组成的国际工作组（IWG）制定了全球指南，为XLH的诊断、管理和监测提供全面的、基于证据的方法。
IWG由43名成员以及方法学家和一名患者代表组成，进行了2项系统评价（SRs）和叙述性综述以解决关键领域问题。SRs探讨了布罗索尤单抗与传统疗法（磷酸盐和活性维生素D）或不治疗相比，对成人患者重要结局的影响。他们还评估了传统疗法与不治疗的比较。采用GRADE方法评估证据的确定性。在缺乏足够证据进行SRs时提出非GRADEd推荐。这些指南已得到多个医学和患者协会及组织的审查和认可。
XLH的诊断基于临床评估、确认肾脏磷酸盐流失的实验室检查结果（排除模仿XLH的疾病后）以及骨骼成像。如有条件，成纤维细胞生长因子23测量和DNA分析在诊断中有价值。PHEX基因中的致病或可能致病变异可确诊，但对诊断并非必需。管理需要一个在XLH方面知识渊博且经验丰富的多学科团队。布罗索尤单抗有效的药物治疗可改善骨折和假性骨折愈合。
对于患有骨折或假性骨折的XLH成人患者，推荐使用布罗索尤单抗而非不治疗（强烈推荐，GRADEd）。此外，在没有骨折或假性骨折的情况下，与传统疗法相比，建议将布罗索尤单抗作为首选治疗方法（有条件推荐，GRADEd）。如果无法获得布罗索尤单抗，有症状的成人患者应接受传统疗法治疗（非GRADEd推荐）。
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