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A first description of the Colombian national registry for rare diseases

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 mill...

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Autores principales: Mateus, Heidi Eliana, Pérez, Ana María, Mesa, Martha Lucía, Escobar, Germán, Gálvez, Jubby Marcela, Montaño, José Ivo, Ospina, Martha Lucía, Laissue, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659024/
https://www.ncbi.nlm.nih.gov/pubmed/29073918
http://dx.doi.org/10.1186/s13104-017-2840-1
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author Mateus, Heidi Eliana
Pérez, Ana María
Mesa, Martha Lucía
Escobar, Germán
Gálvez, Jubby Marcela
Montaño, José Ivo
Ospina, Martha Lucía
Laissue, Paul
author_facet Mateus, Heidi Eliana
Pérez, Ana María
Mesa, Martha Lucía
Escobar, Germán
Gálvez, Jubby Marcela
Montaño, José Ivo
Ospina, Martha Lucía
Laissue, Paul
author_sort Mateus, Heidi Eliana
collection PubMed
description 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13104-017-2840-1) contains supplementary material, which is available to authorized users.
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spelling pubmed-56590242017-11-01 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 BMC Res Notes Research Note 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13104-017-2840-1) contains supplementary material, which is available to authorized users. BioMed Central 2017-10-26 /pmc/articles/PMC5659024/ /pubmed/29073918 http://dx.doi.org/10.1186/s13104-017-2840-1 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Note
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
title A first description of the Colombian national registry for rare diseases
title_full A first description of the Colombian national registry for rare diseases
title_fullStr A first description of the Colombian national registry for rare diseases
title_full_unstemmed A first description of the Colombian national registry for rare diseases
title_short A first description of the Colombian national registry for rare diseases
title_sort first description of the colombian national registry for rare diseases
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659024/
https://www.ncbi.nlm.nih.gov/pubmed/29073918
http://dx.doi.org/10.1186/s13104-017-2840-1
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