Consenso de expertos colombianos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento del raquitismo hipofosfatémico ligado al cromosoma X (RHLX)
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Fecha
2023
Autores
Cárdenas Aguilera, Juan Guillermo
Medina Orjuela, Adriana
Isabel Meza, Adriana
Prieto, Juan Carlos
Zarante Bahamón, Ana María
Cáceres Mosquera, Jimena Adriana
Mejía Gaviria, Natalia
Serrano Gayubo, Ana Katherina
Baquero Rodríguez, Richard
Chacón Acevedo, Kelly
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Editor
Research Square Company
Resumen
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.
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Palabras clave
Rickets, Hypophosphatemic, Fibroblast Growth Factor-23, Diagnosis, Therapeutics, Consensus
