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...
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| Veröffentlicht in: | Revista colombiana de nefrología (En línea) 2024, Vol.11 (1) |
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| creator | 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 Belen Guerra-Hernández, Norma Elizabeth Stefano, Eduardo Enrique Brunetto, Oscar |
| 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 X-linked 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. |
| doi_str_mv | 10.22265/acnef.11.1.754 |
| format | Article |
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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 X-linked 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.</description><identifier>ISSN: 2389-7708</identifier><identifier>EISSN: 2500-5006</identifier><identifier>DOI: 10.22265/acnef.11.1.754</identifier><language>eng</language><publisher>Barranquilla: Asociación Colombiana de Nefrología e Hipertensión Arterial</publisher><subject>Bones ; Clinical practice guidelines ; Genetic disorders ; Homeostasis ; Medical diagnosis ; Rickets</subject><ispartof>Revista colombiana de nefrología (En línea), 2024, Vol.11 (1)</ispartof><rights>2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><orcidid>0000-0003-3650-2785 ; 0000-0002-6743-4650 ; 0000-0002-6917-715X ; 0000-0002-9813-6189 ; 0000-0001-6085-1534 ; 0000-0002-7762-9398 ; 0000-0002-1189-8544 ; 0000-0002-4096-2330 ; 0000-0001-8706-0775 ; 0000-0002-9397-1847 ; 0000-0003-1253-4934 ; 0000-0002-2244-0838 ; 0000-0001-9584-3446 ; 0000-0003-1805-005X ; 0000-0001-5942-1035 ; 0000-0002-6190-6805 ; 0000-0001-5936-3146 ; 0000-0002-9222-3257 ; 0000-0001-9500-6912 ; 0000-0002-6084-7831 ; 0000-0003-1658-7152 ; 0000-0003-0584-7844 ; 0000-0003-4793-3652 ; 0000-0003-2963-3971 ; 0000-0003-4843-7036 ; 0000-0001-9173-1121</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/3053215944?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,860,4010,21367,27900,27901,27902,33721,43781</link.rule.ids></links><search><creatorcontrib>Cárdenas Aguilera, Juan Guillermo</creatorcontrib><creatorcontrib>Medina-Orjuela, Adriana</creatorcontrib><creatorcontrib>Meza-Martínez, Adriana Isabel</creatorcontrib><creatorcontrib>Prieto, Juan Carlos</creatorcontrib><creatorcontrib>Zarante-Bahamón, Ana María</creatorcontrib><creatorcontrib>Cáceres-Mosquera, Jimena Adriana</creatorcontrib><creatorcontrib>Mejía-Gaviria, Natalia</creatorcontrib><creatorcontrib>Serrano-Gayubo, Ana Katherina</creatorcontrib><creatorcontrib>Baquero-Rodríguez, Richard</creatorcontrib><creatorcontrib>Chacón-Acevedo, Kelly</creatorcontrib><creatorcontrib>Guerrero-Tinoco, Gustavo Adolfo</creatorcontrib><creatorcontrib>Uribe-Ríos, Alejandro</creatorcontrib><creatorcontrib>García-Rueda, María Fernanda</creatorcontrib><creatorcontrib>Abad-Londoño, Verónica</creatorcontrib><creatorcontrib>Nossa-Almanza, Sergio Alejandro</creatorcontrib><creatorcontrib>Aroca-Martínez, Gustavo</creatorcontrib><creatorcontrib>Román-González, Alejandro</creatorcontrib><creatorcontrib>Endo-Cáceres, Jorge Alberto</creatorcontrib><creatorcontrib>Llano-Linares, Juan Pablo</creatorcontrib><creatorcontrib>Florenzano, Pablo</creatorcontrib><creatorcontrib>Díaz-Curiel, Manuel</creatorcontrib><creatorcontrib>Vaisbich, María Helena</creatorcontrib><creatorcontrib>Zanchetta, María Belen</creatorcontrib><creatorcontrib>Guerra-Hernández, Norma Elizabeth</creatorcontrib><creatorcontrib>Stefano, Eduardo Enrique</creatorcontrib><creatorcontrib>Brunetto, Oscar</creatorcontrib><title>Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)</title><title>Revista colombiana de nefrología (En línea)</title><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 X-linked hypophosphatemic rickets, while optimizing resources for its treatment and follow-up. 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consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)</title><author>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 Belen ; Guerra-Hernández, Norma Elizabeth ; Stefano, Eduardo Enrique ; Brunetto, 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Verónica</au><au>Nossa-Almanza, Sergio Alejandro</au><au>Aroca-Martínez, Gustavo</au><au>Román-González, Alejandro</au><au>Endo-Cáceres, Jorge Alberto</au><au>Llano-Linares, Juan Pablo</au><au>Florenzano, Pablo</au><au>Díaz-Curiel, Manuel</au><au>Vaisbich, María Helena</au><au>Zanchetta, María Belen</au><au>Guerra-Hernández, Norma Elizabeth</au><au>Stefano, Eduardo Enrique</au><au>Brunetto, Oscar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)</atitle><jtitle>Revista colombiana de nefrología (En línea)</jtitle><date>2024</date><risdate>2024</risdate><volume>11</volume><issue>1</issue><issn>2389-7708</issn><eissn>2500-5006</eissn><abstract>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 X-linked 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.</abstract><cop>Barranquilla</cop><pub>Asociación Colombiana de Nefrología e Hipertensión Arterial</pub><doi>10.22265/acnef.11.1.754</doi><orcidid>https://orcid.org/0000-0003-3650-2785</orcidid><orcidid>https://orcid.org/0000-0002-6743-4650</orcidid><orcidid>https://orcid.org/0000-0002-6917-715X</orcidid><orcidid>https://orcid.org/0000-0002-9813-6189</orcidid><orcidid>https://orcid.org/0000-0001-6085-1534</orcidid><orcidid>https://orcid.org/0000-0002-7762-9398</orcidid><orcidid>https://orcid.org/0000-0002-1189-8544</orcidid><orcidid>https://orcid.org/0000-0002-4096-2330</orcidid><orcidid>https://orcid.org/0000-0001-8706-0775</orcidid><orcidid>https://orcid.org/0000-0002-9397-1847</orcidid><orcidid>https://orcid.org/0000-0003-1253-4934</orcidid><orcidid>https://orcid.org/0000-0002-2244-0838</orcidid><orcidid>https://orcid.org/0000-0001-9584-3446</orcidid><orcidid>https://orcid.org/0000-0003-1805-005X</orcidid><orcidid>https://orcid.org/0000-0001-5942-1035</orcidid><orcidid>https://orcid.org/0000-0002-6190-6805</orcidid><orcidid>https://orcid.org/0000-0001-5936-3146</orcidid><orcidid>https://orcid.org/0000-0002-9222-3257</orcidid><orcidid>https://orcid.org/0000-0001-9500-6912</orcidid><orcidid>https://orcid.org/0000-0002-6084-7831</orcidid><orcidid>https://orcid.org/0000-0003-1658-7152</orcidid><orcidid>https://orcid.org/0000-0003-0584-7844</orcidid><orcidid>https://orcid.org/0000-0003-4793-3652</orcidid><orcidid>https://orcid.org/0000-0003-2963-3971</orcidid><orcidid>https://orcid.org/0000-0003-4843-7036</orcidid><orcidid>https://orcid.org/0000-0001-9173-1121</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2389-7708 |
| ispartof | Revista colombiana de nefrología (En línea), 2024, Vol.11 (1) |
| issn | 2389-7708 2500-5006 |
| language | eng |
| recordid | cdi_proquest_journals_3053215944 |
| source | DOAJ Directory of Open Access Journals; ProQuest Central |
| subjects | Bones Clinical practice guidelines Genetic disorders Homeostasis Medical diagnosis Rickets |
| title | Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH) |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-01T21%3A00%3A17IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Expert%20consensus%20on%20evidence-based%20recommendations%20for%20the%20diagnosis,%20treatment,%20and%20follow-up%20of%20X-linked%20hypophosphatemic%20rickets%20(XLH)&rft.jtitle=Revista%20colombiana%20de%20nefrolog%C3%ADa%20(En%20l%C3%ADnea)&rft.au=C%C3%A1rdenas%20Aguilera,%20Juan%20Guillermo&rft.date=2024&rft.volume=11&rft.issue=1&rft.issn=2389-7708&rft.eissn=2500-5006&rft_id=info:doi/10.22265/acnef.11.1.754&rft_dat=%3Cproquest_cross%3E3053215944%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=3053215944&rft_id=info:pmid/&rfr_iscdi=true |