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IPNA Webinar: “Update on diagnosis and management of children with XLH: what’s new?”
Speaker: Dieter Haffner (Germany)
Moderator: Eugene Chan (Hong Kong)
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. 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. This webinar outlines updated clinical practice recommendations for the diagnosis and management of children with XLH including the transition period to improve outcomes and quality of life in these patients.