Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
| datacite.rights | http://purl.org/coar/access_right/c_abf2 | spa |
| dc.contributor.author | Cárdenas Aguilera, Juan Guillermo | |
| dc.contributor.author | Medina Orjuela, Adriana | |
| dc.contributor.author | Isabel Meza, Adriana | |
| dc.contributor.author | Prieto, Juan Carlos | |
| dc.contributor.author | Zarante Bahamón, Ana María | |
| dc.contributor.author | Cáceres Mosquera, Jimena Adriana | |
| dc.contributor.author | Mejía Gaviria, Natalia | |
| dc.contributor.author | Serrano Gayubo, Ana Katherina | |
| dc.contributor.author | Baquero Rodríguez, Richard | |
| dc.contributor.author | Chacón Acevedo, Kelly | |
| dc.contributor.author | Guerrero Tinoco, Gustavo Adolfo | |
| dc.contributor.author | Uribe Ríos, Alejandro | |
| dc.contributor.author | García Rueda, María Fernanda | |
| dc.contributor.author | Abad Londoño, Verónica | |
| dc.contributor.author | Nossa Almanza, Sergio Alejandro | |
| dc.contributor.author | Aroca Martínez, Gustavo | |
| dc.contributor.author | Román González, Alejandro | |
| dc.contributor.author | Endo Cáceres, Jorge Alberto | |
| dc.contributor.author | Llano Linares, Juan Pablo | |
| dc.contributor.author | Florenzano Valdes, Pablo | |
| dc.contributor.author | Diaz Curiel, Manuel | |
| dc.contributor.author | Vaisbich, María Helena | |
| dc.contributor.author | Zanchetta, María Belén | |
| dc.contributor.author | Guerra Hernández, Norma Elizabeth | |
| dc.contributor.author | Stefano, Eduardo Enrique | |
| dc.contributor.author | Brunetto, Oscar | |
| dc.date.accessioned | 2023-04-17T17:00:51Z | |
| dc.date.available | 2023-04-17T17:00:51Z | |
| dc.date.issued | 2023 | |
| dc.description.abstract | Background: X-linked hypophosphatemic rickets is a hereditary disease that generates alterations in bone mineral homeostasis. The morbidity of the condition has been variable in previous decades and even contradictory, probably due to the definition of the case and the diagnostic confirmation. Our propose was to generate evidence-informed recommendations for the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR. Results: After the screening and selection process for 1041 documents, 38 were included to answer the questions raised by the developer group. 97 recommendations about the diagnosis, treatment, and follow-up of patients with suspected or diagnosed XLHR were approved by the experts consulted through modified Delphi consensus. The quality of the evidence was low. Conclusions: The recommendations proposed here will allow early and timely diagnosis of X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up and help clarify the burden of disease and improve health outcomes for this population. | eng |
| dc.format.mimetype | spa | |
| dc.identifier.doi | https://doi.org/10.21203/rs.3.rs-2228921/v1 | |
| dc.identifier.issn | 26935015 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12442/12237 | |
| dc.identifier.url | https://assets.researchsquare.com/files/rs-2228921/v1/c72b7656-5952-4714-82d0-0c552211d955.pdf?c=1681238143 | eng |
| dc.language.iso | eng | eng |
| dc.publisher | Research Square Company | eng |
| dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
| dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
| dc.source | Research square | eng |
| dc.source | Vol XX, No X, (2023) | |
| dc.subject | Rickets | eng |
| dc.subject | Hypophosphatemic | eng |
| dc.subject | Fibroblast Growth Factor-23 | eng |
| dc.subject | Diagnosis | eng |
| dc.subject | Therapeutics | eng |
| dc.subject | Consensus | eng |
| dc.title | Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX) | spa |
| dc.type.driver | info:eu-repo/semantics/article | spa |
| dc.type.spa | Artículo científico | spa |
| dcterms.references | Giannini 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. | eng |
| dcterms.references | Huertas-Quintero JA, Losada-Trujillo N, Cuellar-Ortiz DA, Velasco-Parra HM. Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018. Lancet Reg Heal - Am. 2022;7:100131. | eng |
| dcterms.references | Dahir K, Roberts MS, Krolczyk S, Simmons JH. X-linked hypophosphatemia: A new era in management. J Endocr Soc. 2020;4(12):1–15. | eng |
| dcterms.references | López-Romero LC, Broseta JJ, Guillén Olmos E, Devesa-Such RJ, Hernández-Jaras J. Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática. Reumatol Clínica. 2021;17(2):116–7. | spa |
| dcterms.references | Whyte 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. | eng |
| dcterms.references | Yuan 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. | eng |
| dcterms.references | Ho BB, Bergwitz C. FGF23 signalling and physiology. J Mol Endocrinol. 2021;66(2):R23–32. | eng |
| dcterms.references | Haffner 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. | eng |
| dcterms.references | Laurent 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. | eng |
| dcterms.references | Padidela 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. | eng |
| dcterms.references | Sanabria AJ, Rigau D, Rotaeche R, Selva A, Marzo-Castillejo M, Alonso-Coello P. Sistema GRADE: metodología para la realización de recomendaciones para la práctica clínica. Atención Primaria. 2015;47(1):48–55. | spa |
| dcterms.references | Al 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). | eng |
| dcterms.references | Lin X, Li S, Zhang Z, Yue H. Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia. Vol. 9, Frontiers in Cell and Developmental Biology. 2021. p. 1177. | eng |
| dcterms.references | Smith 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. | eng |
| dcterms.references | Lempicki 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. | eng |
| dcterms.references | Beck-Nielsen SS, Brixen K, Gram J, Mølgaard C. High bone mineral apparent density in children with Xlinked hypophosphatemia. Osteoporos Int. 2013;24(8):2215–21. | eng |
| dcterms.references | Imel EA, White KE. Pharmacological management of X-linked hypophosphataemia. Br J Clin Pharmacol. 2019;85(6):1188–98. | eng |
| dcterms.references | Živičnjak 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. | eng |
| dcterms.references | Seefried 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. | eng |
| dcterms.references | Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016;174(2):125–36. | eng |
| dcterms.references | Del Pino M, Viterbo G, Fano V. GAP2017 Manejo de Niños con Raquitismo Hipofosfatémico Familiar. 2017. | spa |
| dcterms.references | Kubota 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. Horm Res Paediatr. 2014;81(4):251–7. | eng |
| dcterms.references | Ingraham SE, Patel HP. Evaluation of Renal Function in the Pediatric Patient. In: Clinician’s Manual Of Pediatric Nephrology. World Scientific; 2011. pp. 20–36. | eng |
| dcterms.references | Colantonio 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. | eng |
| dcterms.references | D’Isa DG, Chilelli C, Tau C, Viterbo G, Rubinstein M, Chaler E. Estimacion del intervalo de referencia de calcio, fosforo y fosfatasa alcalina sericos en poblacion pediatrica utilizando una base de datos por el metodo de Hoffmann modificado. Med Infant. 2016;23(1):8–12. | spa |
| dcterms.references | Ruppe MD. X-Linked Hypophosphatemia. GeneReviews. 2017. | eng |
| dcterms.references | Tosur M. Modified nomogram for derivation of renal threshold phosphate concentration. Int Urol Nephrol. 2017;49(7):1309–10. | eng |
| dcterms.references | Lim R, Shailam R, Hulett R, Skrinar A, Nixon A, Williams A, et al. Validation of the Radiographic Global Impression of Change (RGI-C) score to assess healing of rickets in pediatric X-linked hypophosphatemia (XLH). Bone. 2021;148(April):115964. | eng |
| dcterms.references | Thacher TD, Fischer PR, Pettifor JM, Lawson JO, Manaster BJ, Reading JC. Radiographic Scoring Method for the Assessment of the Severity of Nutritional Rickets. J Trop Pediatr. 2000;46(June). | eng |
| dcterms.references | Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, et al. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone. 2019;122(January):76–81. | eng |
| dcterms.references | Beck-Nielsen SS, Brixen K, Gram J, Mølgaard C. High bone mineral apparent density in children with Xlinked hypophosphatemia. Osteoporos Int. 2013;24(8):2215–21. | eng |
| dcterms.references | Quinlan C, Guegan K, Offiah A, Neill RO, Hiorns MP, Ellard S, et al. Growth in PHEX-associated X-linked hypophosphatemic rickets: The importance of early treatment. Pediatr Nephrol. 2012;27(4):581–8. | eng |
| dcterms.references | Linglart A, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, Guillaume-Czitrom S, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13–30. | eng |
| dcterms.references | Sharkey MS, Grunseich K, Carpenter TO. Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. J Am Acad Orthop Surg. 2015;23(7):433–42. | eng |
| dcterms.references | Carpenter TO, Imel EA, Holm IA, Jan de Beur S, Insogna KL. A CLINICIAN’S GUIDE TO X-LINKED HYPOPHOSPHATEMIA. J Bone Min Res. 2011;26(7):1381–8. | eng |
| dcterms.references | Lecoq AL, Brandi ML, Linglart A, Kamenický P. Management of X-linked hypophosphatemia in adults. Metabolism. 2020;103:154049. | eng |
| dcterms.references | Lamb YN. Burosumab: First Global Approval. Drugs. 2018;78(6):707–14. | eng |
| dcterms.references | CADTH. Pharmacoeconomic Review Report (Resubmission). 2020. | eng |
| dcterms.references | Brener A, Lebenthal Y, Cleper R, Kapusta L, Zeitlin L. Body composition and cardiometabolic health of pediatric patients with X-linked hypophosphatemia (XLH) under burosumab therapy. Ther Adv Endocrinol Metab. 2021;12:20420188211001150. | eng |
| dcterms.references | Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, et al. A randomized, double-blind, placebo‐controlled, phase 3 trial evaluating the efficacy of burosumab, an anti‐FGF23 antibody, in adults with X‐linked hypophosphatemia: week 24 primary analysis. J Bone Miner Res. 2018;33(8):1383–93. | eng |
| dcterms.references | Bacchetta J, Rothenbuhler A, Gueorguieva I, Kamenicky P, Salles J-P, Briot K, et al. X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience. Jt Bone Spine. 2021;88(5):105208. | eng |
| dcterms.references | Martín Ramos S, Gil-Calvo M, Roldán V, Castellano Martínez A, Santos F. Positive Response to One-Year Treatment With Burosumab in Pediatric Patients With X-Linked Hypophosphatemia. Front Pediatr. 2020;8(February):1–5. | eng |
| dcterms.references | Gizard A, Rothenbuhler A, Pejin Z, Finidori G, Glorion C, de Billy B, et al. Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR). Endocr Connect. 2017;6(8):566–73. | eng |
| dcterms.references | Stéfano E. Tratamiento ortopédico de XLH. In: Raquitismo hipofosfatémico familiar Archivos latinoamericanos de nefrología pediátrica. 2019. p. 182. | spa |
| dcterms.references | Horn A, Wright J, Bockenhauer D, Van’t Hoff W, Eastwood DM. The orthopaedic management of lower limb deformity in hypophosphataemic rickets. J Child Orthop. 2017;11(4):298–305. | eng |
| oaire.version | info:eu-repo/semantics/acceptedVersion | spa |
Archivos
Bloque original
1 - 1 de 1
Cargando...
- Nombre:
- Consenso_expertos_ colombianos_sobre_recomendaciones_basadas_evidencias.pdf
- Tamaño:
- 1.33 MB
- Formato:
- Adobe Portable Document Format
- Descripción:
Bloque de licencias
1 - 1 de 1
No hay miniatura disponible
- Nombre:
- license.txt
- Tamaño:
- 381 B
- Formato:
- Item-specific license agreed upon to submission
- Descripción: