"English Disease": Historical Notes on Rickets, the Bone-Lung Link and Child Neglect Issues.

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Abstract

[Indexed for MEDLINE] Conflict of interest statement: The authors declare no conflict of interest. 13. J Paediatr Child Health. 2025 May;61(5):685-700. doi: 10.1111/jpc.70015. Epub 2025 Feb 26. X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New Treatment. Sandy JL(1)(2), Biggin A(1)(2)(3), Siafarikas A(4)(5)(6)(7), Simm PJ(7)(8)(9), Rodda CP(7)(8), Munns CF(3)(10). Author information: (1)Institute of Endocrinology and Diabetes, the Children's Hospital at Westmead, Westmead, New South Wales, Australia. (2)Children's Hospital Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Westmead, New South Wales, Australia. (3)Child Health Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, Australia. (4)Department of Endocrinology and Diabetes, Perth Children's Hospital, Nedlands, Western Australia, Australia. (5)Institute for Health Research, Notre Dame University, Fremantle, Western Australia, Australia. (6)Medical School, Paediatrics, University of Western Australia, Perth, Western Australia, Australia. (7)The Kids Research Institute Australia, Nedlands, Western Australia, Australia. (8)Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. (9)Department of Endocrinology and Diabetes, Royal Children's Hospital, Melbourne, Victoria, Australia. (10)Department of Endocrinology and Diabetes, Queensland Children's Hospital, Brisbane, Queensland, Australia. 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. Burosumab is an FGF23 inhibiting monoclonal antibody that has been shown to be significantly more effective in treating X linked hypophosphataemia than previously available treatment ("conventional therapy" with oral phosphate and active vitamin D). Clinical trials and real-world studies have shown that burosumab can improve lower limb deformity, growth, pain, exercise capacity, biochemistry, rickets, and quality of life. However, the full effect of burosumab on the lives of individuals with X linked hypophosphataemia is yet to be determined. How burosumab may impact some of the lesser understood clinical features, including dental abscesses, craniosynostosis, enthesopathy, and osteoarthritis, is unclear. Whether burosumab mitigates the risk of complications associated with conventional therapy (nephrocalcinosis and hyperparathyroidism) has also not been established. There are conflicting recommendations on who should receive burosumab, when they should start it, and for how long they should continue taking it. This review summarises what is known, and more importantly what is unknown, about burosumab use in X linked hypophosphataemia. We highlight important areas for future research to better understand the impact of burosumab in XLH, improve management of XLH, assess cost benefit of, and advocate for fair and equitable access to burosumab. © 2025 The Author(s). Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians). DOI: 10.1111/jpc.70015 PMCID: PMC12052952