Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/220903 |
Resumo: | The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a national reference laboratory and identified 1,652 patients. Using data between 1994 and 2018, the birth prevalence (by 100,000 live births) for MPS was 1.57. MPS II was the most common type of MPS in Brazil, and its birth prevalence was 0.48 (0.94 considering only male births). Regarding the number of cases per region, MPS II was the most frequent in the North and Center-West (followed by MPS VI), and also in the Southeast (followed by MPS I); MPS I and MPS II were the most common types in the South; and MPS VI was the most common in the Northeast (followed by MPS II). The differences observed in the relative frequencies of MPS types across Brazilian regions are likely linked to founder effect, endogamy, and consanguinity, but other factors may be present and need further investigation. |
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Josahkian, Juliana AlvesTrapp, Franciele BarbosaBurin, Maira GraeffTirelli, Kristiane MichelinMagalhães, Ana Paula Pereira Sholz deSebastião, Fernanda MedeirosBender, FernandaDe Mari, Jurema de FatimaFacchin, Ana Carolina BrusiusLeistner-Segal, SandraMálaga, Diana Elizabeth RojasGiugliani, Roberto2021-05-13T04:27:40Z20211415-4757http://hdl.handle.net/10183/220903001123201The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a national reference laboratory and identified 1,652 patients. Using data between 1994 and 2018, the birth prevalence (by 100,000 live births) for MPS was 1.57. MPS II was the most common type of MPS in Brazil, and its birth prevalence was 0.48 (0.94 considering only male births). Regarding the number of cases per region, MPS II was the most frequent in the North and Center-West (followed by MPS VI), and also in the Southeast (followed by MPS I); MPS I and MPS II were the most common types in the South; and MPS VI was the most common in the Northeast (followed by MPS II). The differences observed in the relative frequencies of MPS types across Brazilian regions are likely linked to founder effect, endogamy, and consanguinity, but other factors may be present and need further investigation.application/pdfengGenetics and molecular biology. Ribeirão Preto. Vol. 44, n. 1 (2021), e20201387, 6 p.PrevalênciaNascido vivoMucopolissacaridosesEpidemiologiaBrasilLysosomal storage diseasesMetabolic diseasesMucopolysaccharidosesEpidemiologyBrazilUpdated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regionsinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001123201.pdf.txt001123201.pdf.txtExtracted Texttext/plain24065http://www.lume.ufrgs.br/bitstream/10183/220903/2/001123201.pdf.txt7e24d4fa1bcee507f3c4a4223f2aa717MD52ORIGINAL001123201.pdfTexto completo (inglês)application/pdf673398http://www.lume.ufrgs.br/bitstream/10183/220903/1/001123201.pdfce135251db8152246fdb49f1a2cc4fbbMD5110183/2209032023-07-08 03:36:09.490502oai:www.lume.ufrgs.br:10183/220903Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-07-08T06:36:09Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions |
title |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions |
spellingShingle |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions Josahkian, Juliana Alves Prevalência Nascido vivo Mucopolissacaridoses Epidemiologia Brasil Lysosomal storage diseases Metabolic diseases Mucopolysaccharidoses Epidemiology Brazil |
title_short |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions |
title_full |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions |
title_fullStr |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions |
title_full_unstemmed |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions |
title_sort |
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions |
author |
Josahkian, Juliana Alves |
author_facet |
Josahkian, Juliana Alves Trapp, Franciele Barbosa Burin, Maira Graeff Tirelli, Kristiane Michelin Magalhães, Ana Paula Pereira Sholz de Sebastião, Fernanda Medeiros Bender, Fernanda De Mari, Jurema de Fatima Facchin, Ana Carolina Brusius Leistner-Segal, Sandra Málaga, Diana Elizabeth Rojas Giugliani, Roberto |
author_role |
author |
author2 |
Trapp, Franciele Barbosa Burin, Maira Graeff Tirelli, Kristiane Michelin Magalhães, Ana Paula Pereira Sholz de Sebastião, Fernanda Medeiros Bender, Fernanda De Mari, Jurema de Fatima Facchin, Ana Carolina Brusius Leistner-Segal, Sandra Málaga, Diana Elizabeth Rojas Giugliani, Roberto |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Josahkian, Juliana Alves Trapp, Franciele Barbosa Burin, Maira Graeff Tirelli, Kristiane Michelin Magalhães, Ana Paula Pereira Sholz de Sebastião, Fernanda Medeiros Bender, Fernanda De Mari, Jurema de Fatima Facchin, Ana Carolina Brusius Leistner-Segal, Sandra Málaga, Diana Elizabeth Rojas Giugliani, Roberto |
dc.subject.por.fl_str_mv |
Prevalência Nascido vivo Mucopolissacaridoses Epidemiologia Brasil |
topic |
Prevalência Nascido vivo Mucopolissacaridoses Epidemiologia Brasil Lysosomal storage diseases Metabolic diseases Mucopolysaccharidoses Epidemiology Brazil |
dc.subject.eng.fl_str_mv |
Lysosomal storage diseases Metabolic diseases Mucopolysaccharidoses Epidemiology Brazil |
description |
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, and the totality of cases may be underestimated. To determine the epidemiological profile of MPS in each Brazilian region, we analyzed data collected between 1982 and 2019 by a national reference laboratory and identified 1,652 patients. Using data between 1994 and 2018, the birth prevalence (by 100,000 live births) for MPS was 1.57. MPS II was the most common type of MPS in Brazil, and its birth prevalence was 0.48 (0.94 considering only male births). Regarding the number of cases per region, MPS II was the most frequent in the North and Center-West (followed by MPS VI), and also in the Southeast (followed by MPS I); MPS I and MPS II were the most common types in the South; and MPS VI was the most common in the Northeast (followed by MPS II). The differences observed in the relative frequencies of MPS types across Brazilian regions are likely linked to founder effect, endogamy, and consanguinity, but other factors may be present and need further investigation. |
publishDate |
2021 |
dc.date.accessioned.fl_str_mv |
2021-05-13T04:27:40Z |
dc.date.issued.fl_str_mv |
2021 |
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info:eu-repo/semantics/article info:eu-repo/semantics/other |
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http://hdl.handle.net/10183/220903 |
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1415-4757 |
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001123201 |
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http://hdl.handle.net/10183/220903 |
dc.language.iso.fl_str_mv |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Genetics and molecular biology. Ribeirão Preto. Vol. 44, n. 1 (2021), e20201387, 6 p. |
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info:eu-repo/semantics/openAccess |
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