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ea0070oc2.1 | Bone and Calcium | ECE2020

Real-life clinical study: 1-year of treatment with burosumab of children and adolescents affected with X-linked hypophosphatemia

Zhukouskaya Volha , Mannes Ines , Chaussain Catherine , Audrain Christelle , Lambert Anne-Sophie , Adamsbaum Catherine , Kamenicky Peter , Nevoux Jerome , Wicart Philippe , Briot Karine , Di Rocco Federico , Trabado Séverine , Prié Dominique , Di Somma Carolina , Colao Annamaria , Rothenbuhler Anya , Linglart Agnès

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX mutation, leading to elevated FGF23, renal phosphate wasting, hypophosphatemia, insufficient 1,25(OH)2D synthesis. Clinically, it manifests with rickets including leg deformities, poor growth, dental abscesses, craniosynostosis, and hearing loss. Beyond conventional treatment (phosphate supplements + active vitamin D), burosumab is pathogenetic anti-FGF23 therapeutic approa...

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Real-life clinical study: 1-year of treatment with burosumab of children and adolescents affected with X-linked hypophosphatemia

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