Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)
Introduction: 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 pro...
- Autores:
-
Cárdenas-Aguilera, Juan Guillermo
Medina-Orjuela, Adriana
Meza-Martínez, Adriana Isabel
Prieto, Juan Carlos
Zarante-Bahamón, Ana María
Cáceres-Mosquera, Jimena Adriana
Mejía-Gaviria, Natalia
Serrano-Gayubo, Ana Katherina
Baquero-Rodríguez, Richard
Chacón-Acevedo, Kelly
Guerrero-Tinoco, Gustavo Adolfo
Uribe-Ríos, Alejandro
García-Rueda, María Fernanda
Abad-Londoño, Verónica
Nossa-Almanza, Sergio Alejandro
Aroca-Martínez, Gustavo
Román-González, Alejandro
Endo-Cáceres, Jorge Alberto
Llano-Linares, Juan Pablo
Florenzano, Pablo
Díaz-Curiel, Manuel
Vaisbich, María Helena
Zanchetta, María Belén
Guerra-Hernández, Norma Elizabeth
Enrique Stefano, Eduardo
Brunetto, Oscar
- Tipo de recurso:
- Fecha de publicación:
- 2024
- Institución:
- Universidad Simón Bolívar
- Repositorio:
- Repositorio Digital USB
- Idioma:
- eng
- OAI Identifier:
- oai:bonga.unisimon.edu.co:20.500.12442/14256
- Acceso en línea:
- https://hdl.handle.net/20.500.12442/14256
https://doi.org/10.22265/acnef.11.1
https://revistanefrologia.org/index.php/rcn/issue/view/40
- Palabra clave:
- Rickets
Hypophosphatemic
Fibroblast Growth Factor-23
Diagnosis
Therapeutics
Consensus
Raquitismo
Hipofosfatemia
Factor de crecimiento de fibroblastos-23
Diagnóstico
Rapéutica
Consenso
- Rights
- openAccess
- License
- Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| dc.title.translated.spa.fl_str_mv |
Consenso de expertos sobre recomendaciones basadas en la evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (XLH) |
| title |
Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| spellingShingle |
Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) Rickets Hypophosphatemic Fibroblast Growth Factor-23 Diagnosis Therapeutics Consensus Raquitismo Hipofosfatemia Factor de crecimiento de fibroblastos-23 Diagnóstico Rapéutica Consenso |
| title_short |
Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| title_full |
Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| title_fullStr |
Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| title_full_unstemmed |
Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| title_sort |
Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| dc.creator.fl_str_mv |
Cárdenas-Aguilera, Juan Guillermo Medina-Orjuela, Adriana Meza-Martínez, Adriana Isabel Prieto, Juan Carlos Zarante-Bahamón, Ana María Cáceres-Mosquera, Jimena Adriana Mejía-Gaviria, Natalia Serrano-Gayubo, Ana Katherina Baquero-Rodríguez, Richard Chacón-Acevedo, Kelly Guerrero-Tinoco, Gustavo Adolfo Uribe-Ríos, Alejandro García-Rueda, María Fernanda Abad-Londoño, Verónica Nossa-Almanza, Sergio Alejandro Aroca-Martínez, Gustavo Román-González, Alejandro Endo-Cáceres, Jorge Alberto Llano-Linares, Juan Pablo Florenzano, Pablo Díaz-Curiel, Manuel Vaisbich, María Helena Zanchetta, María Belén Guerra-Hernández, Norma Elizabeth Enrique Stefano, Eduardo Brunetto, Oscar |
| dc.contributor.author.none.fl_str_mv |
Cárdenas-Aguilera, Juan Guillermo Medina-Orjuela, Adriana Meza-Martínez, Adriana Isabel Prieto, Juan Carlos Zarante-Bahamón, Ana María Cáceres-Mosquera, Jimena Adriana Mejía-Gaviria, Natalia Serrano-Gayubo, Ana Katherina Baquero-Rodríguez, Richard Chacón-Acevedo, Kelly Guerrero-Tinoco, Gustavo Adolfo Uribe-Ríos, Alejandro García-Rueda, María Fernanda Abad-Londoño, Verónica Nossa-Almanza, Sergio Alejandro Aroca-Martínez, Gustavo Román-González, Alejandro Endo-Cáceres, Jorge Alberto Llano-Linares, Juan Pablo Florenzano, Pablo Díaz-Curiel, Manuel Vaisbich, María Helena Zanchetta, María Belén Guerra-Hernández, Norma Elizabeth Enrique Stefano, Eduardo Brunetto, Oscar |
| dc.subject.eng.fl_str_mv |
Rickets Hypophosphatemic Fibroblast Growth Factor-23 Diagnosis Therapeutics Consensus |
| topic |
Rickets Hypophosphatemic Fibroblast Growth Factor-23 Diagnosis Therapeutics Consensus Raquitismo Hipofosfatemia Factor de crecimiento de fibroblastos-23 Diagnóstico Rapéutica Consenso |
| dc.subject.spa.fl_str_mv |
Raquitismo Hipofosfatemia Factor de crecimiento de fibroblastos-23 Diagnóstico Rapéutica Consenso |
| description |
Introduction: 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. |
| publishDate |
2024 |
| dc.date.accessioned.none.fl_str_mv |
2024-03-04T21:52:38Z |
| dc.date.available.none.fl_str_mv |
2024-03-04T21:52:38Z |
| dc.date.issued.none.fl_str_mv |
2024 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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info:eu-repo/semantics/article |
| dc.type.spa.spa.fl_str_mv |
Artículo científico |
| dc.identifier.citation.spa.fl_str_mv |
Cárdenas-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.11.1.754 |
| dc.identifier.issn.none.fl_str_mv |
23897708 25005006 (Electrónico) |
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https://hdl.handle.net/20.500.12442/14256 |
| dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.22265/acnef.11.1 |
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https://revistanefrologia.org/index.php/rcn/issue/view/40 |
| identifier_str_mv |
Cárdenas-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.11.1.754 23897708 25005006 (Electrónico) |
| url |
https://hdl.handle.net/20.500.12442/14256 https://doi.org/10.22265/acnef.11.1 https://revistanefrologia.org/index.php/rcn/issue/view/40 |
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eng |
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eng |
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Attribution-NonCommercial-NoDerivatives 4.0 Internacional |
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http://purl.org/coar/access_right/c_abf2 |
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http://creativecommons.org/licenses/by-nc-nd/4.0/ |
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info:eu-repo/semantics/openAccess |
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Attribution-NonCommercial-NoDerivatives 4.0 Internacional http://creativecommons.org/licenses/by-nc-nd/4.0/ http://purl.org/coar/access_right/c_abf2 |
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openAccess |
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pdf |
| dc.publisher.spa.fl_str_mv |
Asociación Colombiana de Nefrología e Hipertensión Arterial |
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Revista Colombiana de Nefrología |
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Rev. Colomb. Nefrol. |
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Vol. 11 No. 1, 2024 |
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Universidad Simón Bolívar |
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Cárdenas-Aguilera, Juan Guillermo525599f6-def2-412d-9149-407a2b9277bcMedina-Orjuela, Adriana5bcfd719-4077-45a9-8c29-8c3247a1befbMeza-Martínez, Adriana Isabel418870b5-9dfb-4334-9f61-fd7ade17cbf7Prieto, Juan Carlosa027f96d-6634-4863-b0b4-a7ce44cb9379Zarante-Bahamón, Ana María2a6ac1c2-7f92-4687-8549-e9a21ad14da0Cáceres-Mosquera, Jimena Adriana8d177bf7-9081-4131-b7e3-fc60aec06fc1Mejía-Gaviria, Natalia3396d65d-673c-4faf-a843-f169dcc195d4Serrano-Gayubo, Ana Katherinaf90e9a8a-bed0-4116-9cba-2077755458e3Baquero-Rodríguez, Richard8c4b476a-a92f-42a8-9ea4-9ee01ecca0acChacón-Acevedo, Kelly22cbdb30-7f5a-4518-b397-6118f6bf1fdbGuerrero-Tinoco, Gustavo Adolfo21a38593-4e61-4e57-9a19-92c259ba181bUribe-Ríos, Alejandrob71c2fcc-4b49-4a64-a3b0-d7952f17f76bGarcía-Rueda, María Fernanda03ce8d9d-b1b5-44ab-9960-7304214d6d40Abad-Londoño, Verónica73112c7f-bfbc-4dbe-b232-b3a4a8bd899cNossa-Almanza, Sergio Alejandro14be8851-605f-4b4b-9b02-2813b6bb021dAroca-Martínez, Gustavoef65933f-3af8-4323-9a75-9d00de17e70aRomán-González, Alejandro194ba11d-77ec-4734-8a92-3111d40ee0edEndo-Cáceres, Jorge Alberto4d1a00cb-2db0-47bd-9fea-09ac1f57a520Llano-Linares, Juan Pablo1919a722-c975-4d62-a6a8-6b2542d919adFlorenzano, Pabloba6ded76-1d1b-44ca-aef9-53a5ebf28aafDíaz-Curiel, Manuel176c134c-de2e-44e4-bc0e-65312077bb13Vaisbich, María Helena3d811f22-2a8f-433d-a69b-0e4e75e39cc3Zanchetta, María Belén2f1c791b-891e-4836-9bda-432fd549fefcGuerra-Hernández, Norma Elizabethd1342983-ad5f-48ef-91ff-f6d9ba17e2fcEnrique Stefano, Eduardo12cff8d3-3b7a-45ed-bc15-06ace4fc3d6bBrunetto, Oscar4facd002-00c1-4b42-b6e0-5c148b08b31e2024-03-04T21:52:38Z2024-03-04T21:52:38Z2024Cárdenas-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.11.1.7542389770825005006 (Electrónico)https://hdl.handle.net/20.500.12442/14256https://doi.org/10.22265/acnef.11.1https://revistanefrologia.org/index.php/rcn/issue/view/40Introduction: 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.Introducción: 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.pdfengAsociación Colombiana de Nefrología e Hipertensión ArterialAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Revista Colombiana de NefrologíaRev. Colomb. Nefrol.Vol. 11 No. 1, 2024RicketsHypophosphatemicFibroblast Growth Factor-23DiagnosisTherapeuticsConsensusRaquitismoHipofosfatemiaFactor de crecimiento de fibroblastos-23DiagnósticoRapéuticaConsensoExpert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)Consenso de expertos sobre recomendaciones basadas en la evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (XLH)info:eu-repo/semantics/articleArtículo científicohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_2df8fbb1Giannini S, Bianchi ML, Rendina D, Massoletti P, Lazzerini D, Brandi ML. Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review. Osteoporos Int. 2021;32(10):1937–49. https://doi.org/10.1210/jendso/bvab054 ↑See page 3, 7, 8López-Romero LC, Broseta JJ, Guillén Olmos E, Devesa-Such RJ, Hernández-Jaras J. Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edadadulta y forma paucisintomática. Reumatol Clínica. 2021;17(2):116–7. https://doi.org/10.1016/j.reuma.2019.07.007 ↑See page 3Del Pino M, Viterbo G, Fano V. GAP2017 Manejo de Niños con Raquitismo Hipofosfatémico Familiar [Internet]. Hospital de pediatría Garrahan:2017 [Citado el 20 de febrero de 2023]. Available at: https://www.garrahan.gov.ar/images/intranet/guias atencion/ GAP 2017 - MANEJO RAQUITISMO.pdfD’Isa DG, Chilelli C, Tau C, Viterbo G, Rubinstein M, Chaler E. Estimación del intervalo de referencia de calcio, fosforo y fosfatasa alcalina séricos en población pediátrica utilizando una base de datos por el método de Hoffman modificado. Med Infant. 2016;23(1):8–12.Stéfano E. Tratamiento ortopédico de XLH. In: Raquitismo hipofosfatémico familiar Archivos latinoamericanos de nefrología pediátrica. 2019. p. 182.Dahir K, Roberts MS, Krolczyk S, Simmons JH. X-linked hypophosphatemia: A new era in management. J Endocr Soc. 2020;4(12):1–15. https://doi.org/10.1210/jendso/bvaa151 ↑See page 3, 20, 22, 23Whyte MP, Schranck FW, Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab. 1996 Nov 1;81(11):4075–80. https://doi.org/10.1210/jcem.81. 11.8923863 ↑See page 3Yuan B, Takaiwa M, Clemens TL, Feng JQ, Kumar R, Rowe PS, et al. Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia. J Clin Invest. 2008 Feb 1;118(2):722–34. https://doi.org/10.1172/JCI32702Ho BB, Bergwitz C. FGF23 signaling and physiology. J Mol Endocrinol. 2021;66(2):R23–32. https://doi.org/10.1530/JME-20-0178Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435–55. https://doi.org/10.1038/s41581-019-0152-5Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, et al. Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium. Front Endocrinol (Lausanne). 2021;12(March):1–20. https://doi.org/10.3389/fendo. 2021.641543Padidela R, Cheung MS, Saraff V, Dharmaraj P. Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations. Endocr Connect. 2020;9(10):1051–6. https://doi.org/10.1530/EC-20-0291Al Juraibah F, Al Amiri E, Al Dubayee M, Al Jubeh J, Al Kandari H, Al Sagheir A, et al. Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries. Arch Osteoporos. 2021;16(1). https://doi.org/10. 1007/s11657-021-00879-9Lin X, Li S, Zhang Z, Yue H. Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia. Front. Cell Dev. Biol. 2021;9:1177. https://doi.org/ 10.3389/fcell.2021.617738Smith PS, Gottesman GS, Zhang F, Cook F, Ramirez B, Wenkert D, et al. X- Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3-UTR Mutation c.* 231A>G (A Retrospective Case-Control Study). J Bone Miner Res. 2020;35(5):920–31. https: //doi.org/10.1002/jbmr.3955Lempicki M, Rothenbuhler A, Merzoug V, Franchi-Abella S, Chaussain C, Adamsbaum C, et al. Magnetic Resonance Imaging Features as Surrogate Markers of X- Linked Hypophosphatemic Rickets Activity. Horm Res Paediatr. 2017;87(4):244–53. https://doi.org/ 10.1159/000464142Beck-Nielsen SS, Brixen K, Gram J, Mølgaard C. High bone mineral apparent density in children with X-linked hypophosphatemia. Osteoporos Int. 2013;24(8):2215–21. https:// doi.org/10.1007/s00198-013-2286-9Imel EA,WhiteKE. hypophosphataemia.BrJ Pharmacological Clin management Pharmacol. of X-linked 2019;85(6):1188–98. https://doi.org/10.1111/bcp.13763Živičnjak M, Schnabel D, Billing H, Staude H, Filler G, Querfeld U, et al. Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2011;26(2):223–31. https://doi.org/10.1007/s00467-010-1705-9Seefried L, Smyth M, Keen R, Harvengt P. Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review. Osteoporos Int. 2021;32(1):7–22. https://doi.org/10.1007/s00198-020-05548-0Colantonio DA, Kyriakopoulou L, Chan MK, Daly CH, Brinc D, Venner AA, et al. Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children. Clin Chem. 2012;58(5):854–68. https://doi.org/10.1373/clinchem.2011.177741Ruppe MD. X-Linked Hypophosphatemia. GeneReviews. 2017. Bookshelf ID: NBK83985PMID: 22319799Ingraham SE, Patel HP. Evaluation of Renal Function in the Pediatric Patient. In: Clinician’s Manual Of Pediatric Nephrology. World Scientific; 2011. p. 20–36. https://doi.org/ 10.1142/9789814317887 0003Tosur M. Modified nomogram for derivation of renal threshold phosphate concentration. Int Urol Nephrol. 2017;49(7):1309–10. https://doi.org/10.1007/s11255-017-1588-9Kubota T, Kitaoka T, Miura K, Fujiwara M, Ohata Y, Miyoshi Y, et al. Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin d-deficient rickets from hypophosphatemic rickets. 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