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<p>X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the <i>PHEX</i> 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.</p>

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Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

  • 期刊论文

  • 发表日期：

    2025年1月15日

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  • Dieter Haffner,
  • Francesco Emma,
  • Lothar Seefried,
  • Wolfgang Högler,
  • Kassim M. Javaid,
  • Detlef Bockenhauer,
  • Justine Bacchetta,
  • Deborah Eastwood,
  • Martin Biosse Duplan,
  • Dirk Schnabel,
  • Philippe Wicart,
  • Gema Ariceta,
  • Elena Levtchenko,
  • Pol Harvengt,
  • Martha Kirchhoff,
  • Oliver Gardiner,
  • Federico Di Rocco,
  • Catherine Chaussain,
  • Maria Luisa Brandi,
  • Lars Savendahl,
  • Karine Briot,
  • Peter Kamenický,
  • Lars Rejnmark,
  • Agnès Linglart

摘要

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.