Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p29 | Bone, Growth Plate and Mineral Metabolism | IMPE2023

Effects of burosumab on two siblings with mild X-linked hypophosphatemia

Fujimoto Masanobu , Senoo Shintaro , Kurosawa Kengo , Yamaguchi Yukiko , Hanaki Keiichi , Namba Noriyuki

X-linked hypophosphatemia (XLH) caused by phosphate regulating endopeptidase X-linked (PHEX) gene defects is a rare disorder affecting 1 in 20,000 individuals. Loss of PHEX function results in renal phosphate wasting with hypophosphatemia via increased serum FGF23. Clinical features in XLH are growth delay, rickets, limb deformities, and bone pain. Burosumab, a monoclonal antibody against FGF23, had slightly improved height Z-score and radiographical findings in sever...