Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría

Richard Baquero Rodríguez; Ana Katherina Serrano Gayubo; Juan Carlos Prieto; Juan Guillermo Cárdenas Aguilera; Carmen Inés Rodríguez Cuéllar; María Fernanda Reina Ávila; Mayra Alexandra Estévez Capacho; Heidy Mateus; Maylin Valencia González; Kelly Rocío Chacón Acevedo; María Paula Gutiérrez Sepúlveda; Dominique Paul Germain; Juan Manuel Politei; Alejandro Fabián Fainboim; Magdalena Cerón Rodríguez; Gustavo Cabrera; Edicson Ruiz Ospina; Martha Isabel Carrascal Guzmán; Lida Esperanza Martínez Cáceres; Sandra Yaneth Ospina Lagos; Hernán Trimarchi; José Miguel Liern

doi:10.12804/revistas.urosario.edu.co/revsalud/a.12504

Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría

Translated title of the contribution: Expert Consensus on Evidence-Based Recommendations for the Diagnosis, Treatment, and Follow-Up of Fabry Disease in Pediatric Patients

Richard Baquero Rodríguez
, Ana Katherina Serrano Gayubo
, Juan Carlos Prieto
, Juan Guillermo Cárdenas Aguilera
, Carmen Inés Rodríguez Cuéllar
, María Fernanda Reina Ávila
, Mayra Alexandra Estévez Capacho
, Heidy Mateus
, Maylin Valencia González
, Kelly Rocío Chacón Acevedo
, María Paula Gutiérrez Sepúlveda
, Dominique Paul Germain
, Juan Manuel Politei
, Alejandro Fabián Fainboim
, Magdalena Cerón Rodríguez
, Gustavo Cabrera
, Edicson Ruiz Ospina
, Martha Isabel Carrascal Guzmán
, Lida Esperanza Martínez Cáceres
, Sandra Yaneth Ospina Lagos

Hernán Trimarchi, José Miguel Liern

Institute of Human Genetics

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Background: Fabry disease (FD) is a rare X-linked disease characterized by the accumulation of glyco-sphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of FD in pediatric FD in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families.

Translated title of the contribution	Expert Consensus on Evidence-Based Recommendations for the Diagnosis, Treatment, and Follow-Up of Fabry Disease in Pediatric Patients
Original language	Spanish
Journal	Revista Ciencias de la Salud
Volume	21
Issue number	3
DOIs	https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12504
State	Published - 01 Sep 2023

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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Rodríguez, R. B., Gayubo, A. K. S., Prieto, J. C., Aguilera, J. G. C., Cuéllar, C. I. R., Ávila, M. F. R., Capacho, M. A. E., Mateus, H., González, M. V., Acevedo, K. R. C., Sepúlveda, M. P. G., Germain, D. P., Politei, J. M., Fainboim, A. F., Rodríguez, M. C., Cabrera, G., Ospina, E. R., Guzmán, M. I. C., Cáceres, L. E. M., ... Liern, J. M. (2023). Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría. Revista Ciencias de la Salud, 21(3). https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12504

@article{4a89d8def45946b5a175623f4c473003,

title = "Consenso de expertos sobre recomendaciones basadas en evidencia para el diagn{\'o}stico, tratamiento y seguimiento de enfermedad de Fabry en pediatr{\'i}a",

abstract = "Background: Fabry disease (FD) is a rare X-linked disease characterized by the accumulation of glyco-sphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of FD in pediatric FD in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families.",

keywords = "Fabry disease, biomarkers, child, diagnosis, therapeutics",

author = "Rodr{\'i}guez, \{Richard Baquero\} and Gayubo, \{Ana Katherina Serrano\} and Prieto, \{Juan Carlos\} and Aguilera, \{Juan Guillermo C{\'a}rdenas\} and Cu{\'e}llar, \{Carmen In{\'e}s Rodr{\'i}guez\} and {\'A}vila, \{Mar{\'i}a Fernanda Reina\} and Capacho, \{Mayra Alexandra Est{\'e}vez\} and Heidy Mateus and Gonz{\'a}lez, \{Maylin Valencia\} and Acevedo, \{Kelly Roc{\'i}o Chac{\'o}n\} and Sep{\'u}lveda, \{Mar{\'i}a Paula Guti{\'e}rrez\} and Germain, \{Dominique Paul\} and Politei, \{Juan Manuel\} and Fainboim, \{Alejandro Fabi{\'a}n\} and Rodr{\'i}guez, \{Magdalena Cer{\'o}n\} and Gustavo Cabrera and Ospina, \{Edicson Ruiz\} and Guzm{\'a}n, \{Martha Isabel Carrascal\} and C{\'a}ceres, \{Lida Esperanza Mart{\'i}nez\} and Lagos, \{Sandra Yaneth Ospina\} and Hern{\'a}n Trimarchi and Liern, \{Jos{\'e} Miguel\}",

year = "2023",

month = sep,

day = "1",

doi = "10.12804/revistas.urosario.edu.co/revsalud/a.12504",

language = "Espa{\~n}ol ",

volume = "21",

journal = "Revista Ciencias de la Salud",

issn = "1692-7273",

publisher = "Universidad del Rosario",

number = "3",

}

Rodríguez, RB, Gayubo, AKS, Prieto, JC, Aguilera, JGC, Cuéllar, CIR, Ávila, MFR, Capacho, MAE, Mateus, H, González, MV, Acevedo, KRC, Sepúlveda, MPG, Germain, DP, Politei, JM, Fainboim, AF, Rodríguez, MC, Cabrera, G, Ospina, ER, Guzmán, MIC, Cáceres, LEM, Lagos, SYO, Trimarchi, H & Liern, JM 2023, 'Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría', Revista Ciencias de la Salud, vol. 21, no. 3. https://doi.org/10.12804/revistas.urosario.edu.co/revsalud/a.12504

TY - JOUR

T1 - Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría

AU - Rodríguez, Richard Baquero

AU - Gayubo, Ana Katherina Serrano

AU - Prieto, Juan Carlos

AU - Aguilera, Juan Guillermo Cárdenas

AU - Cuéllar, Carmen Inés Rodríguez

AU - Ávila, María Fernanda Reina

AU - Capacho, Mayra Alexandra Estévez

AU - Mateus, Heidy

AU - González, Maylin Valencia

AU - Acevedo, Kelly Rocío Chacón

AU - Sepúlveda, María Paula Gutiérrez

AU - Germain, Dominique Paul

AU - Politei, Juan Manuel

AU - Fainboim, Alejandro Fabián

AU - Rodríguez, Magdalena Cerón

AU - Cabrera, Gustavo

AU - Ospina, Edicson Ruiz

AU - Guzmán, Martha Isabel Carrascal

AU - Cáceres, Lida Esperanza Martínez

AU - Lagos, Sandra Yaneth Ospina

AU - Trimarchi, Hernán

AU - Liern, José Miguel

PY - 2023/9/1

Y1 - 2023/9/1

N2 - Background: Fabry disease (FD) is a rare X-linked disease characterized by the accumulation of glyco-sphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of FD in pediatric FD in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families.

AB - Background: Fabry disease (FD) is a rare X-linked disease characterized by the accumulation of glyco-sphingolipids in lysosomes due to the deficiency in the production of alpha-galactosidase A (α-Gal A) enzyme. Despite its low frequency, this disease has a serious impact on the life expectancy and quality. Objective: To make evidence-based recommendations for the diagnosis and treatment of FD in pediatric FD in Colombia and Latin America and clinical decision-making for disease management. Notably, making an early diagnosis ensures a reduction in the impact of this disease on the quality of life of patients and their families.

KW - Fabry disease

KW - biomarkers

KW - child

KW - diagnosis

KW - therapeutics

UR - https://www.scopus.com/pages/publications/85176472241

U2 - 10.12804/revistas.urosario.edu.co/revsalud/a.12504

DO - 10.12804/revistas.urosario.edu.co/revsalud/a.12504

M3 - Artículo

AN - SCOPUS:85176472241

SN - 1692-7273

VL - 21

JO - Revista Ciencias de la Salud

JF - Revista Ciencias de la Salud

IS - 3

ER -

Consenso de expertos sobre recomendaciones basadas en evidencia para el diagnóstico, tratamiento y seguimiento de enfermedad de Fabry en pediatría

Abstract

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