X-Linked Hypophosphatemia: A New Era in Management
Open Access
- 14 October 2020
- journal article
- review article
- Published by The Endocrine Society in Journal of the Endocrine Society
- Vol. 4 (12)
- https://doi.org/10.1210/jendso/bvaa151
Abstract
X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, resulting in excess levels of the phosphate-regulating hormone fibroblast growth factor 23 (FGF23), which leads to renal phosphate wasting and decreased serum 1,25-dihydroxyvitamin D production. Historically, treatment options were limited to oral phosphate and active vitamin D analogues (conventional management) dosed several times daily in an attempt to improve skeletal mineralization by increasing serum phosphorus. The recent approval of burosumab, a fully human monoclonal antibody to FGF23, has provided a new, targeted treatment option for patients with XLH. This review summarizes our current understanding of XLH, the safety and efficacy of conventional management and burosumab, existing recommendations for managing patients, and unanswered questions in the field.Funding Information
- Ultragenyx Pharmaceutical Inc
- Kyowa Kirin International plc
This publication has 74 references indexed in Scilit:
- Phosphate homeostasis and its role in bone healthPediatric Nephrology, 2012
- A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cellsJournal of Bone and Mineral Research, 2011
- A clinician's guide to X-linked hypophosphatemiaJournal of Bone and Mineral Research, 2011
- Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 ConcentrationsJournal of Clinical Endocrinology & Metabolism, 2010
- Hypophosphatemia induced by intravenous administration of saccharated ferric oxide: Another form of FGF23-related hypophosphatemiaBone, 2009
- FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1American Journal of Physiology-Renal Physiology, 2009
- Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp MiceCalcified Tissue International, 2009
- What’s new in hypophosphataemic rickets?European Journal of Pediatrics, 2008
- Calcification of Entheses Associated with X-Linked Hypophosphatemic OsteomalaciaThe New England Journal of Medicine, 1985
- Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1α-hydroxyvitamin D3The Journal of Pediatrics, 1981