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Clinical manifestations and treatment of mucopolysaccharidosis type i patients in Latin America as compared with the rest of the world

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dc.creatorMuñoz-Rojas M.V.spa
dc.creatorBay L.spa
dc.creatorSanchez L.spa
dc.creatorVan Kuijck M.spa
dc.creatorOspina S.spa
dc.creatorCabello J.F.spa
dc.creatorMartins A.M.spa
dc.date.accessioned2020-05-25T23:56:17Z
dc.date.available2020-05-25T23:56:17Z
dc.date.created2011spa
dc.description.abstractBackground Mucopolysaccharidosis I (MPS I) comprises a spectrum of clinical manifestations and is divided into three phenotypes reflecting clinical severity: Hurler, Hurler- Scheie, and Scheie syndromes. There may be important variations in clinical manifestations of this genetic disease in patients residing in different regions of the world. Methods Using data from the MPS I Registry (as of September 2009), we evaluated patients from Latin America (n=118) compared with patients from the rest of the world [ROW (n=727)]. Results Phenotype distribution differed among patients in Latin America compared to ROW(Hurler 31 vs. 62%, Hurler- Scheie 36 vs. 21%, Scheie 10 vs. 11%, and unknown 22 vs. 6%). The frequency of certain symptoms, such as cardiac valve abnormalities, sleep impairment, and joint contractures, also differed between Latin America and ROW for some phenotypes. Median age at MPS I diagnosis was earlier in the ROW than Latin America for all phenotypes, and age at first treatment for Hurler and Hurler-Scheie patients was also earlier in the ROW. Hurler patients in Latin America showed a gap of 3.1 years between median ages of diagnosis and first treatment compared to only 0.5 years in the ROW. Treatment allocation in Latin America compared to ROW was as follows: enzyme replacement therapy (ERT) only, 80 vs. 45%; hematopoietic stem cell transplantation (HSCT) only, 0.9 vs. 27%; both ERT and HSCT, 0 vs. 16%; and neither treatment, 19 vs. 13%. Conclusion These data highlight important differences in MPS I patients between Latin America and ROW in terms of phenotypic distribution, clinical manifestations, and treatment practices. © The Author(s) 2011.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1007/s10545-011-9336-2
dc.identifier.issn01418955
dc.identifier.issn15732665
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22381
dc.language.isoengspa
dc.relation.citationEndPage1037
dc.relation.citationIssueNo. 5
dc.relation.citationStartPage1029
dc.relation.citationTitleJournal of Inherited Metabolic Disease
dc.relation.citationVolumeVol. 34
dc.relation.ispartofJournal of Inherited Metabolic Disease, ISSN:01418955, 15732665, Vol.34, No.5 (2011); pp. 1029-1037spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-82955237534&doi=10.1007%2fs10545-011-9336-2&partnerID=40&md5=b16e6c5ed07d16439ab9f1d3c6d5db55spa
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.keywordAgespa
dc.subject.keywordArticlespa
dc.subject.keywordClinical featurespa
dc.subject.keywordCognitive defectspa
dc.subject.keywordControlled studyspa
dc.subject.keywordCornea diseasespa
dc.subject.keywordDisease registryspa
dc.subject.keywordDisease severityspa
dc.subject.keywordEnzyme replacementspa
dc.subject.keywordGeographic distributionspa
dc.subject.keywordHematopoietic stem cell transplantationspa
dc.subject.keywordHepatomegalyspa
dc.subject.keywordHumanspa
dc.subject.keywordHurler scheie syndromespa
dc.subject.keywordHurler syndromespa
dc.subject.keywordJoint contracturespa
dc.subject.keywordKyphosisspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMucopolysaccharidosisspa
dc.subject.keywordOnset agespa
dc.subject.keywordPhenotypic variationspa
dc.subject.keywordPneumoniaspa
dc.subject.keywordPrevalencespa
dc.subject.keywordScheie syndromespa
dc.subject.keywordScoliosisspa
dc.subject.keywordSleep disorderspa
dc.subject.keywordSnoringspa
dc.subject.keywordSouth and central americaspa
dc.subject.keywordTongue swellingspa
dc.subject.keywordTonsil diseasespa
dc.subject.keywordValvular heart diseasespa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordAge of onsetspa
dc.subject.keywordChildspa
dc.subject.keywordChildeng
dc.subject.keywordComorbidityspa
dc.subject.keywordDiagnosiseng
dc.subject.keywordEnzyme replacement therapyspa
dc.subject.keywordFemalespa
dc.subject.keywordGeographyspa
dc.subject.keywordHematopoietic stem cell transplantationspa
dc.subject.keywordHumansspa
dc.subject.keywordIduronidasespa
dc.subject.keywordInfantspa
dc.subject.keywordInfanteng
dc.subject.keywordLatin americaspa
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordMucopolysaccharidosis ispa
dc.subject.keywordPhenotypespa
dc.subject.keywordRegistriesspa
dc.subject.keywordTime factorsspa
dc.subject.keywordWorld healthspa
dc.subject.keywordYoung adultspa
dc.titleClinical manifestations and treatment of mucopolysaccharidosis type i patients in Latin America as compared with the rest of the worldspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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