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Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)

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datacite.rightshttp://purl.org/coar/access_right/c_abf2spa
dc.contributor.authorCárdenas-Aguilera, Juan Guillermo
dc.contributor.authorMedina-Orjuela, Adriana
dc.contributor.authorMeza-Martínez, Adriana Isabel
dc.contributor.authorPrieto, Juan Carlos
dc.contributor.authorZarante-Bahamón, Ana María
dc.contributor.authorCáceres-Mosquera, Jimena Adriana
dc.contributor.authorMejía-Gaviria, Natalia
dc.contributor.authorSerrano-Gayubo, Ana Katherina
dc.contributor.authorBaquero-Rodríguez, Richard
dc.contributor.authorChacón-Acevedo, Kelly
dc.contributor.authorGuerrero-Tinoco, Gustavo Adolfo
dc.contributor.authorUribe-Ríos, Alejandro
dc.contributor.authorGarcía-Rueda, María Fernanda
dc.contributor.authorAbad-Londoño, Verónica
dc.contributor.authorNossa-Almanza, Sergio Alejandro
dc.contributor.authorAroca-Martínez, Gustavo
dc.contributor.authorRomán-González, Alejandro
dc.contributor.authorEndo-Cáceres, Jorge Alberto
dc.contributor.authorLlano-Linares, Juan Pablo
dc.contributor.authorFlorenzano, Pablo
dc.contributor.authorDíaz-Curiel, Manuel
dc.contributor.authorVaisbich, María Helena
dc.contributor.authorZanchetta, María Belén
dc.contributor.authorGuerra-Hernández, Norma Elizabeth
dc.contributor.authorEnrique Stefano, Eduardo
dc.contributor.authorBrunetto, Oscar
dc.date.accessioned2024-03-04T21:52:38Z
dc.date.available2024-03-04T21:52:38Z
dc.date.issued2024
dc.description.abstractIntroduction: X-linked hypophosphatemic rickets is a hereditary condition causing disruptions in bone mineral homeostasis. The morbidity associated with this condition has exhibited variability in previous decades, possibly stemming from variations in case definitions and diagnostic confirmation procedures. Objective: Our aim was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLH. Methodology: Integration of a literature review with a modified Delphi method, guided by expert consensus. Results: Following the screening and selection of 1041 documents, 41 were chosen to address the queries posed by the developer group. Experts, consulted through a modified Delphi consensus, endorsed 97 recommendations on the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLH. Notably, the quality of the evidence was deemed to be low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of Xlinked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up. In addition, it will help clarify the burden of the disease and improve health outcomes for this population.eng
dc.description.abstractIntroducción: el raquitismo hipofosfatémico ligado al cromosoma X es una enfermedad hereditaria que provoca alteraciones en la homeostasis mineral ósea. La morbilidad de este cuadro ha mostrado variabilidad en décadas anteriores e incluso contradicciones, posiblemente debido a la definición del caso y la confirmación diagnóstica. Objetivo: elaborar recomendaciones fundamentadas en evidencia para el diagnóstico, tratamiento y seguimiento de pacientes con sospecha o diagnóstico de XLH. Metodología: revisión de la literatura y consenso de expertos mediante el método Delphi modificado. Resultados: después de llevar a cabo el proceso de tamización y selección de 1,041 documentos, se incorporaron 41 para abordar las preguntas planteadas por el grupo desarrollador. Se obtuvieron 97 recomendaciones sobre el diagnóstico, tratamiento y seguimiento de pacientes con sospecha o diagnóstico de XLH, las cuales fueron aprobadas por expertos consultados mediante un consenso Delphi modificado. Cabe destacar que la calidad de la evidencia fue baja. Conclusiones: las recomendaciones propuestas aquí posibilitarán el diagnóstico temprano y oportuno del raquitismo hipofosfatémico ligado al cromosoma X. Al mismo tiempo, optimizarán la asignación de recursos destinados a su tratamiento y seguimiento, contribuyendo así a dilucidar la carga de enfermedad y a mejorar los resultados de salud en esta población.spa
dc.format.mimetypepdfspa
dc.identifier.citationCárdenas-Aguilera JG, Medina-Orjuela A, Meza-Martínez AI, Prieto JC, Zarante- Bahamón AM, Cáceres-Mosquera JA, et al. Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH). Rev. Colomb. Nefrol. 2024; 11(1), e754. https://doi.org/10.22265/acnef.11.1.754spa
dc.identifier.doihttps://doi.org/10.22265/acnef.11.1
dc.identifier.issn23897708
dc.identifier.issn25005006 (Electrónico)
dc.identifier.urihttps://hdl.handle.net/20.500.12442/14256
dc.identifier.urlhttps://revistanefrologia.org/index.php/rcn/issue/view/40
dc.language.isoengeng
dc.publisherAsociación Colombiana de Nefrología e Hipertensión Arterialspa
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.sourceRevista Colombiana de Nefrologíaspa
dc.sourceRev. Colomb. Nefrol.eng
dc.sourceVol. 11 No. 1, 2024
dc.subjectRicketseng
dc.subjectHypophosphatemiceng
dc.subjectFibroblast Growth Factor-23eng
dc.subjectDiagnosiseng
dc.subjectTherapeuticseng
dc.subjectConsensuseng
dc.subjectRaquitismospa
dc.subjectHipofosfatemiaspa
dc.subjectFactor de crecimiento de fibroblastos-23spa
dc.subjectDiagnósticospa
dc.subjectRapéuticaspa
dc.subjectConsensospa
dc.titleExpert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)eng
dc.title.translatedConsenso de expertos sobre recomendaciones basadas en la evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (XLH)spa
dc.type.driverinfo:eu-repo/semantics/articlespa
dc.type.spaArtículo científicospa
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