A first description of the Colombian national registry for rare diseases

Título traducido de la contribución: Una primera descripción del registro nacional de enfermedades raras de Colombia

Heidi Eliana Mateus, Ana María Pérez, Martha Lucía Mesa, Germán Escobar, Jubby Marcela Gálvez, José Ivo Montaño, Martha Lucía Ospina, Paul Laissue

Resultado de la investigación: Contribución a RevistaArtículo

1 Cita (Scopus)

Resumen

OBJETIVO:
Las enfermedades huérfanas deben ser consideradas como un problema de salud pública, lo que implica retos específicos de cada país para su diagnóstico, clasificación y gestión precisos y oportunos. Todavía no se han creado registros de enfermedades huérfanas en América del Sur, un continente con una población de ~ 415 millones de habitantes. En Colombia ~ 3 millones de pacientes están afectados por enfermedades raras. El objetivo del presente estudio era establecer el primer registro nacional colombiano de enfermedades raras. El registro se creó tras el establecimiento de leyes que promovían el desarrollo de directrices clínicas para el diagnóstico, la gestión, el censo y el registro de pacientes que sufrían enfermedades raras.

RESULTADOS:
En total, 13.215 pacientes fueron inscritos en el registro colombiano. La encuesta reportó 653 enfermedades raras. Las enfermedades más comunes fueron la deficiencia congénita del factor VIII (hemofilia A) (8,5%), la miastenia grave (6,4%), la enfermedad de von Willebrand (5,9%), la baja estatura por anomalía cualitativa de la hormona de crecimiento (4,2%), la displasia broncopulmonar (3,9%) y la fibrosis quística (3,2%). Si bien se observó un marcado subregistro de casos, algunas patologías mostraron un comportamiento similar al reportado por otras iniciativas y bases de datos. Los datos actualmente disponibles en el registro proporcionan una línea de base para mejorar las encuestas locales y regionales y el comienzo para entender mejor las enfermedades raras en Colombia.
Idioma originalEnglish (US)
Páginas (desde-hasta)514
PublicaciónBMC Research Notes
Volumen10
N.º1
DOI
EstadoPublished - oct 26 2017
Publicado de forma externa

Citar esto

Mateus, H. E., Pérez, A. M., Mesa, M. L., Escobar, G., Gálvez, J. M., Montaño, J. I., ... Laissue, P. (2017). A first description of the Colombian national registry for rare diseases. BMC Research Notes, 10(1), 514. https://doi.org/10.1186/s13104-017-2840-1
Mateus, Heidi Eliana ; Pérez, Ana María ; Mesa, Martha Lucía ; Escobar, Germán ; Gálvez, Jubby Marcela ; Montaño, José Ivo ; Ospina, Martha Lucía ; Laissue, Paul. / A first description of the Colombian national registry for rare diseases. En: BMC Research Notes. 2017 ; Vol. 10, N.º 1. pp. 514.
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abstract = "OBJECTIVE: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases.RESULTS: In total, 13,215 patients were recorded in the Colombian registry. The survey reported 653 rare diseases. The most common diseases were congenital factor VIII deficiency (hemophilia A) (8.5{\%}), myasthenia gravis (6.4{\%}), von Willebrand disease (5.9{\%}), short stature due to growth hormone qualitative anomaly (4.2{\%}), bronchopulmonary dysplasia (3.9{\%}) and cystic fibrosis (3.2{\%}). Although, a marked under-reporting of cases was observed, some pathologies displayed similar behavior to that reported by other initiatives and databases. The data currently available in the registry provides a baseline for improvement regarding local and regional surveys and the start for better understanding rare diseases in Colombia.",
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Mateus, HE, Pérez, AM, Mesa, ML, Escobar, G, Gálvez, JM, Montaño, JI, Ospina, ML & Laissue, P 2017, 'A first description of the Colombian national registry for rare diseases', BMC Research Notes, vol. 10, n.º 1, pp. 514. https://doi.org/10.1186/s13104-017-2840-1

A first description of the Colombian national registry for rare diseases. / Mateus, Heidi Eliana; Pérez, Ana María; Mesa, Martha Lucía; Escobar, Germán; Gálvez, Jubby Marcela; Montaño, José Ivo; Ospina, Martha Lucía; Laissue, Paul.

En: BMC Research Notes, Vol. 10, N.º 1, 26.10.2017, p. 514.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - A first description of the Colombian national registry for rare diseases

AU - Mateus, Heidi Eliana

AU - Pérez, Ana María

AU - Mesa, Martha Lucía

AU - Escobar, Germán

AU - Gálvez, Jubby Marcela

AU - Montaño, José Ivo

AU - Ospina, Martha Lucía

AU - Laissue, Paul

PY - 2017/10/26

Y1 - 2017/10/26

N2 - OBJECTIVE: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases.RESULTS: In total, 13,215 patients were recorded in the Colombian registry. The survey reported 653 rare diseases. The most common diseases were congenital factor VIII deficiency (hemophilia A) (8.5%), myasthenia gravis (6.4%), von Willebrand disease (5.9%), short stature due to growth hormone qualitative anomaly (4.2%), bronchopulmonary dysplasia (3.9%) and cystic fibrosis (3.2%). Although, a marked under-reporting of cases was observed, some pathologies displayed similar behavior to that reported by other initiatives and databases. The data currently available in the registry provides a baseline for improvement regarding local and regional surveys and the start for better understanding rare diseases in Colombia.

AB - OBJECTIVE: Orphan diseases must be considered a public health concern, underlying country-specific challenges for their accurate and opportune diagnosis, classification and management. Orphan disease registries have not yet been created in South America, a continent having a population of ~ 415 million inhabitants. In Colombia ~ 3 million of patients are affected by rare diseases. The aim of the present study was to establish the first Colombian national registry for rare diseases. The registry was created after the establishment of laws promoting the development of clinical guidelines for diagnosis, management, census and registry of patients suffering rare diseases.RESULTS: In total, 13,215 patients were recorded in the Colombian registry. The survey reported 653 rare diseases. The most common diseases were congenital factor VIII deficiency (hemophilia A) (8.5%), myasthenia gravis (6.4%), von Willebrand disease (5.9%), short stature due to growth hormone qualitative anomaly (4.2%), bronchopulmonary dysplasia (3.9%) and cystic fibrosis (3.2%). Although, a marked under-reporting of cases was observed, some pathologies displayed similar behavior to that reported by other initiatives and databases. The data currently available in the registry provides a baseline for improvement regarding local and regional surveys and the start for better understanding rare diseases in Colombia.

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DO - 10.1186/s13104-017-2840-1

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C2 - 29073918

VL - 10

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JO - BMC Research Notes

JF - BMC Research Notes

SN - 1756-0500

IS - 1

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Mateus HE, Pérez AM, Mesa ML, Escobar G, Gálvez JM, Montaño JI y otros. A first description of the Colombian national registry for rare diseases. BMC Research Notes. 2017 oct 26;10(1):514. https://doi.org/10.1186/s13104-017-2840-1