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Burosumab for Pediatric X-Linked Hypophosphatemia

  • Pediatrics (C Munns and F Rauch, Section Editors)
  • Published:
Current Osteoporosis Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

X-Linked hypophosphatemia (XLH) is the most common genetic cause of rickets. This review describes advances in the management of XLH using burosumab which was FDA approved for treating children with XLH in 2018.

Recent Findings

Elevated FGF23 in XLH leads to systemic hypophosphatemia and several musculoskeletal manifestations, including rachitic bone deformities, impaired growth, dental abscesses, insufficiency fractures, osteoarthritis, and enthesopathy, with lifelong consequences for physical function and quality of life. Burosumab treatment has demonstrated clinical improvement of rickets and growth in children, including during a randomized controlled trial compared with conventional therapy. Burosumab also improved pseudofracture healing in adults.

Summary

Burosumab led to greater improvement in rickets and growth than conventional therapy. However, many questions remain regarding the impact of burosumab on several outcomes, including final height, nephrocalcinosis, dental disease, enthesopathy, and surgical interventions.

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Funding

This manuscript was supported in part by the National Institutes of Health through NIAMS grant P30AR072581.

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Authors and Affiliations

  1. Department of Medicine, Indiana University School of Medicine, 1120 West Michigan Street, CL 365, Indianapolis, IN, 46202-5111, USA

    Erik A. Imel

  2. Department of Pediatrics, Indiana University School of Medicine, 1120 West Michigan Street, CL 365, Indianapolis, IN, 46202-5111, USA

    Erik A. Imel

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EAI has received research funding and fees for consultation from Ultragenyx Pharmaceuticals.

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Imel, E.A. Burosumab for Pediatric X-Linked Hypophosphatemia. Curr Osteoporos Rep 19, 271–277 (2021). https://doi.org/10.1007/s11914-021-00669-9

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