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:
Tipo de recurso:
Fecha de publicación:
2017
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/23588
Acceso en línea:
https://doi.org/10.1186/s13104-017-2840-1
https://repository.urosario.edu.co/handle/10336/23588
Palabra clave:
Adolescent
Adult
Aged
Child
Colombia
Female
Human
Infant
Male
Middle aged
Newborn
Preschool child
Rare disease
Register
Statistics and numerical data
Very elderly
Young adult
Adolescent
Adult
Aged
Aged, 80 and over
Child
Colombia
Female
Humans
Infant
Male
Middle aged
Rare diseases
Registries
Young adult
Colombian health system
Orphan disease
Rare disease registry
preschool
newborn
Child
Infant
Rights
License
Abierto (Texto Completo)
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spelling f1dae9ec-4709-4f46-9cfa-032204144134-12c6437ba-04b2-4ca0-9673-f56cff89e469-16d9f0834-4e9c-4c09-a27b-d5fe089113e3-19ec55a7e-0511-44c5-af49-b921aba28514-1579e451e-504f-49ec-8f4f-412b49ca8d80-1fb063f2d-12f0-465d-8f2b-5a316191e73b-177be235a-2644-44fd-94a9-71bc3eb864ce-1797827706002020-05-26T00:03:24Z2020-05-26T00:03:24Z2017Objective: 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. © 2017 The Author(s).application/pdfhttps://doi.org/10.1186/s13104-017-2840-117560500https://repository.urosario.edu.co/handle/10336/23588engBioMed Central Ltd.No. 1BMC Research NotesVol. 10BMC Research Notes, ISSN:17560500, Vol.10, No.1 (2017)https://www.scopus.com/inward/record.uri?eid=2-s2.0-85032337213&doi=10.1186%2fs13104-017-2840-1&partnerID=40&md5=e0b4bfb63e67db97cdd36b4e4625e61aAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURAdolescentAdultAgedChildColombiaFemaleHumanInfantMaleMiddle agedNewbornPreschool childRare diseaseRegisterStatistics and numerical dataVery elderlyYoung adultAdolescentAdultAgedAged, 80 and overChildColombiaFemaleHumansInfantMaleMiddle agedRare diseasesRegistriesYoung adultColombian health systemOrphan diseaseRare disease registrypreschoolnewbornChildInfantA first description of the Colombian national registry for rare diseasesarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Mateus, Heidi ElianaPérez, Ana MaríaMesa, Martha LucíaEscobar, GermánGálvez, Jubby MarcelaMontaño, José IvoOspina, Martha LucíaLaissue, PaulORIGINALs13104-017-2840-1.pdfapplication/pdf1645429https://repository.urosario.edu.co/bitstreams/237acb0f-2cda-47c9-b22b-e726882ad605/downloade096632ce91260eeabdac5991aea03b5MD51TEXTs13104-017-2840-1.pdf.txts13104-017-2840-1.pdf.txtExtracted texttext/plain28018https://repository.urosario.edu.co/bitstreams/633fb16e-d8d7-49c9-b8a3-0d698a713ba8/download053b760546cf132cc827828a2290047cMD52THUMBNAILs13104-017-2840-1.pdf.jpgs13104-017-2840-1.pdf.jpgGenerated Thumbnailimage/jpeg4601https://repository.urosario.edu.co/bitstreams/0b660148-3c17-4193-9e53-d23342bd5d75/download9e7d3da0ab41c683e02aef45c2f7d15eMD5310336/23588oai:repository.urosario.edu.co:10336/235882022-05-02 07:37:14.62298https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co
dc.title.spa.fl_str_mv A first description of the Colombian national registry for rare diseases
title A first description of the Colombian national registry for rare diseases
spellingShingle A first description of the Colombian national registry for rare diseases
Adolescent
Adult
Aged
Child
Colombia
Female
Human
Infant
Male
Middle aged
Newborn
Preschool child
Rare disease
Register
Statistics and numerical data
Very elderly
Young adult
Adolescent
Adult
Aged
Aged, 80 and over
Child
Colombia
Female
Humans
Infant
Male
Middle aged
Rare diseases
Registries
Young adult
Colombian health system
Orphan disease
Rare disease registry
preschool
newborn
Child
Infant
title_short 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_sort A first description of the Colombian national registry for rare diseases
dc.subject.keyword.spa.fl_str_mv Adolescent
Adult
Aged
Child
Colombia
Female
Human
Infant
Male
Middle aged
Newborn
Preschool child
Rare disease
Register
Statistics and numerical data
Very elderly
Young adult
Adolescent
Adult
Aged
Aged, 80 and over
Child
Colombia
Female
Humans
Infant
Male
Middle aged
Rare diseases
Registries
Young adult
Colombian health system
Orphan disease
Rare disease registry
topic Adolescent
Adult
Aged
Child
Colombia
Female
Human
Infant
Male
Middle aged
Newborn
Preschool child
Rare disease
Register
Statistics and numerical data
Very elderly
Young adult
Adolescent
Adult
Aged
Aged, 80 and over
Child
Colombia
Female
Humans
Infant
Male
Middle aged
Rare diseases
Registries
Young adult
Colombian health system
Orphan disease
Rare disease registry
preschool
newborn
Child
Infant
dc.subject.keyword.eng.fl_str_mv preschool
newborn
Child
Infant
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. © 2017 The Author(s).
publishDate 2017
dc.date.created.spa.fl_str_mv 2017
dc.date.accessioned.none.fl_str_mv 2020-05-26T00:03:24Z
dc.date.available.none.fl_str_mv 2020-05-26T00:03:24Z
dc.type.eng.fl_str_mv article
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dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1186/s13104-017-2840-1
dc.identifier.issn.none.fl_str_mv 17560500
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/23588
url https://doi.org/10.1186/s13104-017-2840-1
https://repository.urosario.edu.co/handle/10336/23588
identifier_str_mv 17560500
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationIssue.none.fl_str_mv No. 1
dc.relation.citationTitle.none.fl_str_mv BMC Research Notes
dc.relation.citationVolume.none.fl_str_mv Vol. 10
dc.relation.ispartof.spa.fl_str_mv BMC Research Notes, ISSN:17560500, Vol.10, No.1 (2017)
dc.relation.uri.spa.fl_str_mv https://www.scopus.com/inward/record.uri?eid=2-s2.0-85032337213&doi=10.1186%2fs13104-017-2840-1&partnerID=40&md5=e0b4bfb63e67db97cdd36b4e4625e61a
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dc.rights.acceso.spa.fl_str_mv Abierto (Texto Completo)
rights_invalid_str_mv Abierto (Texto Completo)
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dc.publisher.spa.fl_str_mv BioMed Central Ltd.
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