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A first description of the Colombian national registry for rare diseases

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dc.creatorMateus, Heidi Elianaspa
dc.creatorPérez, Ana Maríaspa
dc.creatorMesa, Martha Lucíaspa
dc.creatorEscobar, Germánspa
dc.creatorGálvez, Jubby Marcelaspa
dc.creatorMontaño, José Ivospa
dc.creatorOspina, Martha Lucíaspa
dc.creatorLaissue, Paul
dc.date.accessioned2020-05-26T00:03:24Z
dc.date.available2020-05-26T00:03:24Z
dc.date.created2017spa
dc.description.abstractObjective: 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).eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1186/s13104-017-2840-1
dc.identifier.issn17560500
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23588
dc.language.isoengspa
dc.publisherBioMed Central Ltd.spa
dc.relation.citationIssueNo. 1
dc.relation.citationTitleBMC Research Notes
dc.relation.citationVolumeVol. 10
dc.relation.ispartofBMC Research Notes, ISSN:17560500, Vol.10, No.1 (2017)spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85032337213&doi=10.1186%2fs13104-017-2840-1&partnerID=40&md5=e0b4bfb63e67db97cdd36b4e4625e61aspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAdolescentspa
dc.subject.keywordpreschooleng
dc.subject.keywordAgedspa
dc.subject.keywordChildspa
dc.subject.keywordColombiaspa
dc.subject.keywordFemalespa
dc.subject.keywordHumanspa
dc.subject.keywordInfantspa
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordNewbornspa
dc.subject.keywordPreschool childspa
dc.subject.keywordRare diseasespa
dc.subject.keywordRegisterspa
dc.subject.keywordStatistics and numerical dataspa
dc.subject.keywordVery elderlyspa
dc.subject.keywordYoung adultspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAgedspa
dc.subject.keywordAged, 80 and overspa
dc.subject.keywordChildspa
dc.subject.keywordChildeng
dc.subject.keywordColombiaspa
dc.subject.keywordFemalespa
dc.subject.keywordHumansspa
dc.subject.keywordInfantspa
dc.subject.keywordInfanteng
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordRare diseasesspa
dc.subject.keywordRegistriesspa
dc.subject.keywordYoung adultspa
dc.subject.keywordColombian health systemspa
dc.subject.keywordOrphan diseasespa
dc.subject.keywordRare disease registryspa
dc.titleA first description of the Colombian national registry for rare diseasesspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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