FGF23 and its role in X-linked hypophosphatemia-related morbidity

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dc.contributor.author Beck-Nielsen, Signe S
dc.contributor.author Mughal, Zulf
dc.contributor.author Haffner, Dieter
dc.contributor.author Nilsson, Ola
dc.contributor.author Levtchenko, Elena
dc.contributor.author Ariceta, Gema
dc.contributor.author de Lucas Collantes, Carmen
dc.contributor.author Schnabel, Dirk
dc.contributor.author Jandhyala, Ravi
dc.contributor.author Mäkitie, Outi
dc.date.accessioned 2019-03-03T04:14:48Z
dc.date.available 2019-03-03T04:14:48Z
dc.date.issued 2019-02-26
dc.identifier.citation Orphanet Journal of Rare Diseases. 2019 Feb 26;14(1):58
dc.identifier.uri http://hdl.handle.net/10138/299821
dc.description.abstract Abstract Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, X-Linked (PHEX) gene lead to local and systemic effects including impaired growth, rickets, osteomalacia, bone abnormalities, bone pain, spontaneous dental abscesses, hearing difficulties, enthesopathy, osteoarthritis, and muscular dysfunction. Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range of animal models have been developed to study these diseases, yet the role of FGF23 in the pathophysiology of XLH is incompletely understood. Methods The role of FGF23 in the pathophysiology of XLH is here reviewed by describing what is known about phenotypes associated with various PHEX mutations, animal models of XLH, and non-nutritional diseases of hypophosphatemia, and by presenting molecular pathways that have been proposed to contribute to manifestations of XLH. Results The pathophysiology of XLH is complex, involving a range of molecular pathways that variously contribute to different manifestations of the disease. Hypophosphatemia due to elevated FGF23 is the most obvious contributor, however localised fluctuations in tissue non-specific alkaline phosphatase (TNAP), pyrophosphate, calcitriol and direct effects of FGF23 have been observed to be associated with certain manifestations. Conclusions By describing what is known about these pathways, this review highlights key areas for future research that would contribute to the understanding and clinical treatment of non-nutritional diseases of hypophosphatemia, particularly XLH.
dc.publisher BioMed Central
dc.subject X-linked hypophosphatemia (XLH)
dc.subject fibroblast growth factor 23 (FGF23)
dc.subject phosphate regulating endopeptidase homolog, X-linked (PHEX)
dc.subject hypophosphatemia
dc.subject vitamin D deficiency
dc.subject rickets
dc.subject osteomalacia
dc.subject bone dysplasia
dc.subject ectopic calcification
dc.subject muscle weakness
dc.subject dental abscess
dc.subject hearing impairment
dc.title FGF23 and its role in X-linked hypophosphatemia-related morbidity
dc.date.updated 2019-03-03T04:14:48Z
dc.language.rfc3066 en
dc.rights.holder The Author(s).
dc.type.uri http://purl.org/eprint/entityType/ScholarlyWork
dc.type.uri http://purl.org/eprint/entityType/Expression
dc.type.uri http://purl.org/eprint/type/JournalArticle

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