Switching from active vitamin D and phosphate supplementation to burosumab significantly corrects lower limb malalignment in pediatric X-linked hypophosphatemia.

ABSTRACT: X-linked hypophosphatemia (XLH) is a rare disorder of renal phosphate wasting and dysregulated active vitamin D metabolism, ultimately presenting as rickets and osteomalacia, among other manifestations. Lower extremity deformity (genu valgum and/or varum) is frequent in this pediatric population. Despite prompt active vitamin D and phosphate supplementation (active D/Pi), many patients require corrective surgery for lower limb malformation. Burosumab has demonstrated improvements in lower limb malalignment in children with XLH in several studies. We expand on those reports by assessing mechanical femoral tibial angle (mFTA) change in patients enrolled in the XLH Disease Monitoring Program (DMP), (NCT03651505) to determine the impact of initiating burosumab treatment after a history of acti

SUBMITTER: Ward LM 

PROVIDER: S-EPMC12685721 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature