Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)

Author:

Aguilera Juan Guillermo Cárdenas1ORCID,Orjuela Adriana Medina2,Meza Adriana Isabel3,Prieto Juan Carlos4,Bahamón Ana María Zarante5,Mosquera Jimena Adriana Cáceres6,Gaviria Natalia Mejía7,Gayubo Ana Katherina Serrano8,Rodriguez Richard Baquero9,Acevedo Kelly Chacón10,Tinoco Gustavo Adolfo Guerrero11,Rios Alejandro Uribe12,Rueda María Fernanda García13,Londoño Verónica Abad14,Almanza Sergio Alejandro Nossa3,Martínez Gustavo Aroca15,González Alejandro Román12,Cáceres Jorge Alberto Endo16,Linares Juan Pablo Llano17,Valdes Pablo Florenzano18,Curiel Manuel Diaz19,Vaisbich María Helena20,Zanchetta María Belen21,Hernández Norma Elizabeth Guerra22,Stefano Eduardo Enrique23,Brunetto Oscar24

Affiliation:

1. Subred Integrada de Servicios de Salud Sur Occidente

2. Hospital San José

3. Instituto Roosevelt

4. Universidad Javeriana, Instituto de Genética Humana

5. Hospital Universitario San Ignacio

6. Clínica Infantil Santa Maria del Lago, Keralty

7. Fundación Santa Fe de Bogotá

8. IPS Universitaria, Medellín

9. Hospital Universitario San Vicente Fundación

10. Asociación Colombiana de Nefrología Pediátrica ACONEPE

11. Hospital Infantil Napoleón Franco Pareja

12. Hospital San Vicente Fundación

13. Instituto Rooselvelt

14. Abad Laboratorio

15. Universidad Simón Bolívar Facultad de Ciencias de la Salud

16. Fundación Clínica Infantil Club Noel

17. Laboratorio de Investigación Hormonal

18. Pontificia Universidad Católica

19. Fundación Hispana de Osteoporosis y Enfermedades Metabólicas Óseas

20. Universidade de São Paulo

21. Universidad del Salvador

22. Hospital General del Centro Médico Nacional ¨La Raza¨

23. Hospital de Niños de Buenos Aires

24. Hospital General de Niños Pedro de Elizalde

Abstract

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.

Publisher

Research Square Platform LLC

Reference45 articles.

1. Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review;Giannini S;Osteoporos Int,2021

2. 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.

3. X-linked hypophosphatemia: A new era in management;Dahir K;J Endocr Soc,2020

4. Raquitismo hipofosfatémico ligado al cromosoma X: diagnóstico en la edad adulta y forma paucisintomática;López-Romero LC;Reumatol Clínica,2021

5. 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.

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