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 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.

• Autores: Román González, Alejandro; Baquero Rodríguez, Richard; Uribe Ríos, Alejandro; Cárdenas Aguilera, Juan Guillermo; Medina Orjuela, Adriana; Meza Martínez, Adriana Isabel; Prieto Rivera, Juan Carlos; Zarante Bahamón, Ana María; Cáceres Mosquera, Jimena Adriana; Mejía Gaviria, Natalia; Serrano Gayubo, Ana Katherina; Chacón Acevedo, Kelly; Guerrero Tinoco, Gustavo Adolfo; García Rueda, María Fernanda; Abad Londoño, Verónica; Nossa Almanza, Sergio Alejandro; Aroca Martínez, Gustavo; Endo Cáceres, Jorge Alberto; Llano Linares, Juan Pablo; Florenzano Valdes, Pablo; Díaz Curiel, Manuel; Vaisbich, María Helena; Zanchetta, María Belen; Guerra Hernández, Norma Elizabeth; Stefano, Eduardo Enrique; Brunetto, Oscar
• Tipo de recurso: Review article
• Fecha de publicación: 2024
• Institución: Universidad de Antioquia
• Repositorio: Repositorio UdeA
• Idioma: eng
• OAI Identifier: oai:bibliotecadigital.udea.edu.co:10495/48375
• Acceso en línea: https://hdl.handle.net/10495/48375
• Palabra clave: Raquitismo; Rickets; Factor-23 de Crecimiento de Fibroblastos; Fibroblast Growth Factor-23; Diagnóstico; Diagnosis; Terapéutica; Therapeutics; Consenso; Consensus; https://id.nlm.nih.gov/mesh/D012279; https://id.nlm.nih.gov/mesh/D000089703; https://id.nlm.nih.gov/mesh/D003933; https://id.nlm.nih.gov/mesh/D013812; https://id.nlm.nih.gov/mesh/D032921; ODS 3: Salud y bienestar. Garantizar una vida sana y promover el bienestar de todos a todas las edades
• Rights: openAccess
• License: http://creativecommons.org/licenses/by-nc-nd/4.0/