hrp0095p1-228 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effect of burosumab treatment on phosphate metabolism and bone health in patients with X-linked hypophosphatemic rickets (XLH). Preliminary data within an Italian sample.

Baroncelli Giampiero , Comberiati Pasquale , Rita Sessa Maria , Pelosini Caterina , Grandone Anna , Camodeca Rosanna , Emma Francesco

XLH is the commonest inherited form of rickets. Impaired regulation of fibroblast growth factor 23 (FGF23) due to PHEX gene mutation leads to reduced tubular reabsorption of phosphate (TmP/GFR) and 1,25-dihydroxyvitamin D (1,25(OH)2D) synthesis with hypophosphatemia. Patients show rickets and osteomalacia, bone and muscular pain, stunted growth, and reduced quality of life. We report preliminary data on burosumab therapy in a selected sample of Italian patients.<p class="a...