Expert Consensus on Evidenced-Based Recommendations for the Diagnosis, Treatment and Follow-up of Fabry Disease in Pediatric Patients in Colombia

DOI:  https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12504
Dibujo elaborado por Sara Sofía Espinosa Méndez

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Published: Oct 11, 2023
Issue: Vol. 21 No. 3 (2023): Revista Ciencias de la Salud
Section Clinical or Experimental Research


Keywords: Fabry Disease Child Diagnosis Therapeutics Biomarkers

Main Article Content

Authors

  Richard Baquero Rodriguez
Universidad de Antioquia, Hospital San Vicente Fundacion, Medellin, Colombia
  Ana Katherina Serrano Gayubo
  Juan Carlos Prieto Rivera
  Juan Guillermo Cardenas Aguilera
  Carmen Inés Rodríguez Cuéllar
  Maria Fernanda Reina Ávila
  Mayra Alexandra Estévez Capacho
  Heidy Mateus
Maylin Valencia González
  Kelly Rocío Chacón Acevedo
  Maria Paula Gutiérrez Sepúlveda
  Dominique P Germain
  Juan Politei
  Alejandro Fabian Fainboim
  Magdalena Cerón Rodríguez
  Gustavo Cabrera
  Edicson Rodríguez Ibarra
  Martha Isabel Carrascal Guzmán
  Lida Esperanza Martínez Cáceres
  Sandra Yaneth Ospina Lagos
  Hernán Trimarchi
  Miguel Liern

Abstract

Background: Fabry disease (FD) is a rare X-linked disorder disease characterized by the deposit glycosphingolipids in lysosomes due to a deficiency in the production of alpha galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on quality of and life expectancy.


Objective: To make evidence-informed recommendations for the diagnosis and treatment of FD in pediatric patients (< 18 years of age).


Methods: A literature review was carried out in databases and gray literature from 2010, including clinical practice guidelines, systematic reviews, primary studies. The quality of evidence was assessed according to the type of evidence. The recommendations were submitted to expert consensus using the modified Delphi methodology. The agreement was defined from 80%.


Conclusions: The recommendations resulting from this expert consensus will allow the standardization of the provision of care to pediatric patients with FD in Colombia and Latin-America, as well as of clinical decisión making in the management of the disease. Also, it is worth noting that making a timely diagnosis ensures a reduction in the impact that this disease might have on the quality of life of both patients and their families.


Keywords: Fabry Disease; Child; Diagnosis; Therapeutics; Biomarkers.

Author Biographies

Richard Baquero Rodriguez, Universidad de Antioquia, Hospital San Vicente Fundacion, Medellin, Colombia

Hospital Universitario San Vicente Fundación, Medellín, Colombia

Universidad de Antioquia, Facultad de Medicina, Departamento de Pediatría y Puericultura, Medellín, Colombia

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

 

Ana Katherina Serrano Gayubo

IPS Universitaria, Medellín, Colombia

Fresenius Medical Care, Medellín, Colombia

Universidad de Antioquia. Departamento de Pediatría y Puericultura. Facultad de Medicina, Medellín, Colombia

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

 

Juan Carlos Prieto Rivera

Universidad Javeriana, Instituto de Genética Humana, Bogotá, Colombia

Hospital la Victoria Subred Integrada de Servicios de Salud Centro-Oriente, Bogotá, Colombia

Juan Guillermo Cardenas Aguilera

RTS Baxter, Bogotá, Colombia

Subred Integrada de Servicios de Salud Sur Occidente, Bogotá, Colombia

Universidad Militar Nueva Granada, Bogotá, Colombia

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

Carmen Inés Rodríguez Cuéllar

Fundación Clínica Shaio, Bogotá, Colombia

Centro Policlínico del Olaya, Bogotá, Colombia

Coordinadora de Educación Instituto Rosevelt, Bogotá, Colombia

Universidad del Rosario. Departamento de Pediatría. Bogotá, Colombia

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

Maria Fernanda Reina Ávila

Hospital Militar Central, Bogotá, Colombia

Fundación Hospital de la Misericordia, Bogotá, Colombia

Subred Integrada de Servicios de Salud Sur Occidente, Bogotá, Colombia

Mayra Alexandra Estévez Capacho

Unidad de Gastroenterología, Nutrición y Endoscopia Pediátrica (Uganep), Bucaramanga, Santander, Colombia

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

Heidy Mateus

PTC Therapeutics, Bogotá, Colombia

Asociación Colombiana de Genética Humana

Maylin Valencia González

EPS Sanitas, Barranquilla, Colombia

Centro Médico Nuevo Horizonte, Barranquilla, Colombia

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

Kelly Rocío Chacón Acevedo

Instituto Global de Excelencia Clínica, Keralty. Bogotá. Colombiano

Maria Paula Gutiérrez Sepúlveda

Instituto Global de Excelencia Clínica, Keralty. Bogotá. Colombiano

Dominique P Germain

University of Versailles, French Referral Center for Fabry Disease. Division of Medical Genetics and INSERM U1179, Francia

Juan Politei

Fundación para el Estudio de las Enfermedades Neurometábolicas. Buenos Aires, Argentina

Alejandro Fabian Fainboim

Hospital General de Niños Ricardo Gutiérrez, Buenos Aires, Argentina

Magdalena Cerón Rodríguez

Hospital Infantil de México Federico Gómez: México

Gustavo Cabrera

Santa María de la Salud, Buenos Aires, Argentina

Edicson Rodríguez Ibarra

Universidad Nacional de Colombia. Bogotá, Colombia

Centro de Investigación en Fisiatría y Electrodiagnóstico-Cifel, Bogotá, Colombia

Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia

Martha Isabel Carrascal Guzmán

Fundación clínica infantil Club Noel, Cali, Valle del Cauca, Colombia

Universidad del Valle, Departamento de Pediatría. Cali, Valle del Cauca, Colombia

Fresenius Medical Care. Cali, Valle del Cauca, Colombia

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

Lida Esperanza Martínez Cáceres

Departamento de Pediatria UNAB/UIS, Bucaramanga, Santander.

Hospital Internacional de Colombia/ Clínica San Luis, Bucaramanga, Santander.

Asociación Colombiana de Nefrología Pediátrica-Aconepe, Bogotá, Colombia

Sandra Yaneth Ospina Lagos

Universidad Nacional de Colombia, Bogotá, Colombia

Hernán Trimarchi

Hospital Británico Buenos Aires, Buenos Aires, Argentina

Miguel Liern

Hospital General de Niños Ricardo Gutiérrez, Buenos Aires Argentina

How to Cite
Baquero Rodriguez, R., Serrano Gayubo, A. K., Prieto Rivera, J. C., Cardenas Aguilera, J. G., Rodríguez Cuéllar, C. I., Reina Ávila, M. F., … Liern, M. (2023). Expert Consensus on Evidenced-Based Recommendations for the Diagnosis, Treatment and Follow-up of Fabry Disease in Pediatric Patients in Colombia. Revista Ciencias De La Salud, 21(3), 1–24. https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12504
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