Multidisciplinary approach to X-linked hypophosphatemia: A literature review

• Autores: Falcon-Guerrero, Britto Ebert, Falcón-Pasapera, Guido Sebastián, Falcón-Guerrero, Robert Willy
• Formato: artículo
• Fecha de Publicación: 2024
• Institución: Universidad de Huánuco
• Repositorio: Revistas - Universidad de Huánuco
• Lenguaje: español
• OAI Identifier: oai:ojs2.localhost:article/476
• Enlace del recurso: http://revistas.udh.edu.pe/index.php/RPCS/article/view/476
• Nivel de acceso: acceso abierto
• Materia: análisis genotipo-fenotipo; evaluación de resultados; raquitismo hipofosfatémico ligado al cromosoma X; salud; genotype-phenotype analysis; outcome evaluation; X-linked hypophosphatemic rickets; health

X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and osteomalacia. It results from dysregulated fbroblast growth factor 23 (FGF23) due to a mutation in the PHEX gene, leading to decreased tubular phosphate reabsorption, reduced renal 1a-hydroxylase activity, and increased renal 24-hydroxylase activity. Patients with XLH present with rickets and osteomalacia, severe lower limb deformities, bone and muscle pain, growth retardation, and reduced quality of life. As a multisystemic disorder, XLH requires a multidisciplinary approach involving highly specialized felds. Severe complications associatedwith XLH include craniosynostosis, hearing loss, progressive bone deformities, recurrent dentaland periodontal lesions, and psychosocial distress. Given these concerns, we conducted a literature review of PLOS ONE and the PubMed and Google Scholar databases, focusing onpublications from the past fve years, to refne diagnostic and treatment approaches.