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

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,...

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Autores: Beck-Nielsen, Signe, Mughal, Zulf, Haffner, Dieter, Nilsson, Ola, Levtchenko, Elena, Ariceta Iraola, Gema|||0000-0003-1763-1098, de Lucas-Collantes, Carmen, Schnabel, Dirk, Jandhyala, Ravi|||0000-0002-7241-7476, Mäkitie, Outi
Tipo de recurso: artículo
Fecha de publicación:2019
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:226367
Acceso en línea:https://ddd.uab.cat/record/226367
https://dx.doi.org/urn:doi:10.1186/s13023-019-1014-8
Access Level:acceso abierto
Palabra clave:X-linked hypophosphatemia (XLH)
Fibroblast growth factor 23 (FGF23)
Phosphate regulating endopeptidase homolog, X-linked (PHEX)
Hypophosphatemia
Vitamin D deficiency
Rickets
Osteomalacia
Bone dysplasia
Ectopic calcification
Muscle weakness
Dental abscess
Hearing impairment
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spelling FGF23 and its role in X-linked hypophosphatemia-related morbidityBeck-Nielsen, SigneMughal, ZulfHaffner, DieterNilsson, OlaLevtchenko, ElenaAriceta Iraola, Gema|||0000-0003-1763-1098de Lucas-Collantes, CarmenSchnabel, DirkJandhyala, Ravi|||0000-0002-7241-7476Mäkitie, OutiX-linked hypophosphatemia (XLH)Fibroblast growth factor 23 (FGF23)Phosphate regulating endopeptidase homolog, X-linked (PHEX)HypophosphatemiaVitamin D deficiencyRicketsOsteomalaciaBone dysplasiaEctopic calcificationMuscle weaknessDental abscessHearing impairmentX-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. 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. 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. 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.Universitat Autònoma de Barcelona 22019-01-0120192019-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/226367https://dx.doi.org/urn:doi:10.1186/s13023-019-1014-8reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2263672026-06-06T12:50:31Z
dc.title.none.fl_str_mv FGF23 and its role in X-linked hypophosphatemia-related morbidity
title FGF23 and its role in X-linked hypophosphatemia-related morbidity
spellingShingle FGF23 and its role in X-linked hypophosphatemia-related morbidity
Beck-Nielsen, Signe
X-linked hypophosphatemia (XLH)
Fibroblast growth factor 23 (FGF23)
Phosphate regulating endopeptidase homolog, X-linked (PHEX)
Hypophosphatemia
Vitamin D deficiency
Rickets
Osteomalacia
Bone dysplasia
Ectopic calcification
Muscle weakness
Dental abscess
Hearing impairment
title_short FGF23 and its role in X-linked hypophosphatemia-related morbidity
title_full FGF23 and its role in X-linked hypophosphatemia-related morbidity
title_fullStr FGF23 and its role in X-linked hypophosphatemia-related morbidity
title_full_unstemmed FGF23 and its role in X-linked hypophosphatemia-related morbidity
title_sort FGF23 and its role in X-linked hypophosphatemia-related morbidity
dc.creator.none.fl_str_mv Beck-Nielsen, Signe
Mughal, Zulf
Haffner, Dieter
Nilsson, Ola
Levtchenko, Elena
Ariceta Iraola, Gema|||0000-0003-1763-1098
de Lucas-Collantes, Carmen
Schnabel, Dirk
Jandhyala, Ravi|||0000-0002-7241-7476
Mäkitie, Outi
author Beck-Nielsen, Signe
author_facet Beck-Nielsen, Signe
Mughal, Zulf
Haffner, Dieter
Nilsson, Ola
Levtchenko, Elena
Ariceta Iraola, Gema|||0000-0003-1763-1098
de Lucas-Collantes, Carmen
Schnabel, Dirk
Jandhyala, Ravi|||0000-0002-7241-7476
Mäkitie, Outi
author_role author
author2 Mughal, Zulf
Haffner, Dieter
Nilsson, Ola
Levtchenko, Elena
Ariceta Iraola, Gema|||0000-0003-1763-1098
de Lucas-Collantes, Carmen
Schnabel, Dirk
Jandhyala, Ravi|||0000-0002-7241-7476
Mäkitie, Outi
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv X-linked hypophosphatemia (XLH)
Fibroblast growth factor 23 (FGF23)
Phosphate regulating endopeptidase homolog, X-linked (PHEX)
Hypophosphatemia
Vitamin D deficiency
Rickets
Osteomalacia
Bone dysplasia
Ectopic calcification
Muscle weakness
Dental abscess
Hearing impairment
topic X-linked hypophosphatemia (XLH)
Fibroblast growth factor 23 (FGF23)
Phosphate regulating endopeptidase homolog, X-linked (PHEX)
Hypophosphatemia
Vitamin D deficiency
Rickets
Osteomalacia
Bone dysplasia
Ectopic calcification
Muscle weakness
Dental abscess
Hearing impairment
description 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. 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. 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. 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.
publishDate 2019
dc.date.none.fl_str_mv 2
2019-01-01
2019
2019-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/226367
https://dx.doi.org/urn:doi:10.1186/s13023-019-1014-8
url https://ddd.uab.cat/record/226367
https://dx.doi.org/urn:doi:10.1186/s13023-019-1014-8
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
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repository.mail.fl_str_mv
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