X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment

X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease

Citation:
Sandy JL, Biggin A, Siafarikas A, Simm PJ, Rodda CP, Munns CF. X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment. J Paediatr Child Health. 2025.

Keywords:
adolescent; endocrinology; hypophosphataemia; orthopaedics; rickets

Abstract:
X linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease.