Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/34064 http://dx.doi.org/10.1007/s10545-011-9336-2 |
Resumo: | Background 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. |
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Munoz-Rojas, Maria VeronicaBay, LuisaSanchez, Luzvan Kuijck, MarcelOspina, SandraFrancisco Cabello, JuanMartins, Ana Maria [UNIFESP]Hosp Nacl Pediat JP GarrahanHosp Especialidades UMAE 25Genzyme CorpUniv RosarioUniv ValparaisoUniv ChileUniversidade Federal de São Paulo (UNIFESP)2016-01-24T14:17:14Z2016-01-24T14:17:14Z2011-10-01Journal of Inherited Metabolic Disease. Dordrecht: Springer, v. 34, n. 5, p. 1029-1037, 2011.0141-8955http://repositorio.unifesp.br/handle/11600/34064http://dx.doi.org/10.1007/s10545-011-9336-2WOS000297749500007.pdf10.1007/s10545-011-9336-2WOS:000297749500007Background 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.MPS I Registry team at Genzyme CorporationHosp Nacl Pediat JP Garrahan, Unidad Errores Congenitos Metab, Buenos Aires, DF, ArgentinaHosp Especialidades UMAE 25, Monterrey, MexicoGenzyme Corp, Latin Amer Grp, Registry Program, Rio de Janeiro, BrazilUniv Rosario, Fdn Univ Ciencias Salud, Bogota, ColombiaUniv Valparaiso, Fac Med, Neurol Infantil Programa Formac Neuropediat, Valparaiso, ChileUniv Chile, INTA, Lab Genet & Enfermedades Metab, Santiago, ChileUniversidade Federal de São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, BrazilGenzyme Corp, Latin Amer Grp, Compassionate Use Program, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, BrazilWeb of Science1029-1037engSpringerJournal of Inherited Metabolic Diseasehttp://www.springer.com/open+access/authors+rights?SGWID=0-176704-12-683201-0info:eu-repo/semantics/openAccessClinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the worldinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlereponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPORIGINALWOS000297749500007.pdfapplication/pdf895419${dspace.ui.url}/bitstream/11600/34064/1/WOS000297749500007.pdfd21273de896fa6e4adb95acea51c15caMD51open accessTEXTWOS000297749500007.pdf.txtWOS000297749500007.pdf.txtExtracted texttext/plain32812${dspace.ui.url}/bitstream/11600/34064/2/WOS000297749500007.pdf.txtdc5f21caa612f5bd2e43f2ff60dd285aMD52open access11600/340642023-02-15 10:46:32.312open accessoai:repositorio.unifesp.br:11600/34064Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-05-25T12:31:04.511840Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world |
title |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world |
spellingShingle |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world Munoz-Rojas, Maria Veronica |
title_short |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world |
title_full |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world |
title_fullStr |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world |
title_full_unstemmed |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world |
title_sort |
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world |
author |
Munoz-Rojas, Maria Veronica |
author_facet |
Munoz-Rojas, Maria Veronica Bay, Luisa Sanchez, Luz van Kuijck, Marcel Ospina, Sandra Francisco Cabello, Juan Martins, Ana Maria [UNIFESP] |
author_role |
author |
author2 |
Bay, Luisa Sanchez, Luz van Kuijck, Marcel Ospina, Sandra Francisco Cabello, Juan Martins, Ana Maria [UNIFESP] |
author2_role |
author author author author author author |
dc.contributor.institution.none.fl_str_mv |
Hosp Nacl Pediat JP Garrahan Hosp Especialidades UMAE 25 Genzyme Corp Univ Rosario Univ Valparaiso Univ Chile Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Munoz-Rojas, Maria Veronica Bay, Luisa Sanchez, Luz van Kuijck, Marcel Ospina, Sandra Francisco Cabello, Juan Martins, Ana Maria [UNIFESP] |
description |
Background 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. |
publishDate |
2011 |
dc.date.issued.fl_str_mv |
2011-10-01 |
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2016-01-24T14:17:14Z |
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2016-01-24T14:17:14Z |
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Journal of Inherited Metabolic Disease. Dordrecht: Springer, v. 34, n. 5, p. 1029-1037, 2011. |
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http://repositorio.unifesp.br/handle/11600/34064 http://dx.doi.org/10.1007/s10545-011-9336-2 |
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0141-8955 |
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WOS000297749500007.pdf |
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10.1007/s10545-011-9336-2 |
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Journal of Inherited Metabolic Disease. Dordrecht: Springer, v. 34, n. 5, p. 1029-1037, 2011. 0141-8955 WOS000297749500007.pdf 10.1007/s10545-011-9336-2 WOS:000297749500007 |
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