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X-linked hypophosphatemia and growth

dc.contributor.authorFuente Pérez, Rocío 
dc.contributor.authorGil Peña, Helena 
dc.contributor.authorClaramunt Taberner, Debora 
dc.contributor.authorHernández Frías, Olaya
dc.contributor.authorFernández Iglesias, Ángela
dc.contributor.authorAlonso Durán, Laura 
dc.contributor.authorRodríguez Rubio, Enrique
dc.contributor.authorSantos Rodríguez, Fernando 
dc.date.accessioned2017-10-25T10:19:24Z
dc.date.available2017-10-25T10:19:24Z
dc.date.issued2017-01-27
dc.identifier.citationReviews in Endocrine and Metabolic Disorders, 18(1), p. 107-115 (2017);doi: 10.1007/s11154-017-9408-1
dc.identifier.issn1389-9155
dc.identifier.issn1573-2606
dc.identifier.urihttp://hdl.handle.net/10651/43849
dc.description.abstractX-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23). Short stature and rachitic osseous lesions are characteristic phenotypic findings of XLH although the severity of these manifestations is highly variable among patients. The degree of growth impairment is not dependent on the magnitude of hypophosphatemia or the extent of legs´ bowing and height is not normalized by chronic administration of phosphate supplements and 1α hydroxyvitamin D derivatives. Treatment with growth hormone accelerates longitudinal growth rate but there is still controversy regarding the potential risk of increasing bone deformities and body disproportion. Treatments aimed at blocking FGF23 action are promising, but information is lacking on the consequences of counteracting FGF23 during the growing period. This review summarizes current knowledge on phosphorus metabolism in XLH, presents updated information on XLH and growth, including the effects of FGF23 on epiphyseal growth plate of the Hyp mouse, an animal model of the disease, and discusses growth hormone and novel FGF23 related therapies.spa
dc.description.sponsorshipThis work was supported by the National Plan I + D + I 2008-2011, Instituto de Salud Carlos III (PI12/00987) and also by the National Plan I + D + I 2013-2016 Instituto de Salud Carlos III (PI14/00702 and PI15/02122), European Regional Development Funds 2013-2016 (ERDF, Grupín 14-020), the Foundation of the University of Oviedo (FUO), and by the Severo Ocha Grant 2013-2017 in the framework of “Programa Estatal de Promoción del Talento y su Empleabilidad en I+D+I, Subprograma Estatal de Formación”spa
dc.format.extentp. 107–115spa
dc.language.isoengspa
dc.publisherSpringer USspa
dc.relation.ispartofReviews in Endocrine and Metabolic Disorders, 18(1)spa
dc.rights© Springer Science+Business Media New York, 2017
dc.rightsCC Reconocimiento - No comercial - Sin obras derivadas 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectXLHspa
dc.subjectGrowthspa
dc.titleX-linked hypophosphatemia and growtheng
dc.typeinfo:eu-repo/semantics/articlespa
dc.identifier.doi10.1007/s11154-017-9408-1
dc.type.dcmitextspa
dc.relation.projectIDISCIII/PI12/00987
dc.relation.projectIDISCIII/PI14/00702
dc.relation.projectIDISCIII/PI15/02122
dc.relation.projectIDERDF/Grupín 14-020
dc.relation.publisherversionhttp://dx.doi.org/10.1007/s11154-017-9408-1


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