Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

IF 28.6 1区 医学 Q1 UROLOGY & NEPHROLOGY
Dieter Haffner, Francesco Emma, Lothar Seefried, Wolfgang Högler, Kassim M. Javaid, Detlef Bockenhauer, Justine Bacchetta, Deborah Eastwood, Martin Biosse Duplan, Dirk Schnabel, Philippe Wicart, Gema Ariceta, Elena Levtchenko, Pol Harvengt, Martha Kirchhoff, Oliver Gardiner, Federico Di Rocco, Catherine Chaussain, Maria Luisa Brandi, Lars Savendahl, Karine Briot, Peter Kamenický, Lars Rejnmark, Agnès Linglart
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Abstract

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert. Historically, these patients were treated with frequent doses of oral phosphate supplements and active vitamin D, which was of limited efficiency and associated with adverse effects. However, the management of XLH has evolved in the past few years owing to the availability of burosumab, a fully humanized monoclonal antibody that neutralizes circulating FGF23. Here, we provide updated clinical practice recommendations for the diagnosis and management of XLH to improve outcomes and quality of life in these patients.

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来源期刊
Nature Reviews Nephrology
Nature Reviews Nephrology 医学-泌尿学与肾脏学
CiteScore
39.00
自引率
1.20%
发文量
127
审稿时长
6-12 weeks
期刊介绍: Nature Reviews Nephrology aims to be the premier source of reviews and commentaries for the scientific communities it serves. It strives to publish authoritative, accessible articles. Articles are enhanced with clearly understandable figures, tables, and other display items. Nature Reviews Nephrology publishes Research Highlights, News & Views, Comments, Reviews, Perspectives, and Consensus Statements. The content is relevant to nephrologists and basic science researchers. The broad scope of the journal ensures that the work reaches the widest possible audience.
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