hrp0097p2-307 | Late Breaking | ESPE2023

Burosumab Therapy response in a family with X-Linked Hypophosphatemic Rickets

Carolina Arias Cau Ana , Quispe Florencia , Araya Nicolas , Sanchez Veronica

Introduction: X-linked hypophosphatemia (XLH), due to PHEX mutation, is the most common genetic form of rickets in children. This rare disease is characterized by decreased tubular reabsorption and increased renal loss of phosphorus due to increased FGF-23 levels. In children, XLH is often manifested by short stature, rickets and bowel limbs deformity. Conventional treatment with oral phosphorus salts and calcitriol is not always well tolerated which has a pro...