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Interdisciplinary management of fgf23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with x-linked hypophosphataemia

dc.contributor.authorTrombetti, A.
dc.contributor.authorAl-Daghri, N.
dc.contributor.authorBrandi, M. L.
dc.contributor.authorCannata Andía, Jorge Benito 
dc.date.accessioned2023-02-01T11:50:36Z
dc.date.available2023-02-01T11:50:36Z
dc.date.issued2022
dc.identifier.citationNature Reviews Endocrinology, 18(6), p. 366-384 (2022); doi:10.1038/s41574-022-00662-x
dc.identifier.issn1759-5029
dc.identifier.urihttp://hdl.handle.net/10651/65954
dc.description.abstractX-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). In addition to rickets and osteomalacia, patients with XLH have a heavy disease burden with enthesopathies, osteoarthritis, pseudofractures and dental complications, all of which contribute to reduced quality of life. This Consensus Statement presents the outcomes of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, and provides robust clinical evidence on management in XLH, with an emphasis on patients’ experiences and needs. During growth, conventional treatment with phosphate supplements and active vitamin D metabolites (such as calcitriol) improves growth, ameliorates leg deformities and dental manifestations, and reduces pain. The continuation of conventional treatment in symptom-free adults is still debated. A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. Given the diversity of symptoms and complications, an interdisciplinary approach to management is of paramount importance. The focus of treatment should be not only on the physical manifestations and challenges associated with XLH and other FGF23-mediated hypophosphataemia syndromes, but also on the major psychological and social impact of the disease.
dc.description.sponsorshipEuropean Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis and Musculoskeletal Diseases (ESCEO)
dc.description.statementofresponsibilityTrombetti, A., Al-Daghri, N., Brandi, M.L., Cannata-Andía, J.B., Cavalier, E., Chandran, M., Chaussain, C., Cipullo, L., Cooper, C., Haffner, D., Harvengt, P., Harvey, N.C., Javaid, M.K., Jiwa, F., Kanis, J.A., Laslop, A., Laurent, M.R., Linglart, A., Marques, A., Mindler, G.T., Minisola, S., Yerro, M.C.P., Rosa, M.M., Seefried, L., Vlaskovska, M., Zanchetta, M.B., Rizzoli, R.
dc.format.extentp. 366-384
dc.language.isoeng
dc.relation.ispartofNature Reviews Endocrinology
dc.rights© Springer Nature Limited 2022
dc.sourceScopus
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85129376525&doi=10.1038%2fs41574-022-00662-x&partnerID=40&md5=2021a7cb1f15d4b529fb341c94447cb2
dc.titleInterdisciplinary management of fgf23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with x-linked hypophosphataemia
dc.typejournal article
dc.identifier.doi10.1038/s41574-022-00662-x
dc.relation.publisherversionhttp://dx.doi.org/10.1038/s41574-022-00662-x


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