Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

Detalhes bibliográficos
Autor(a) principal: Josahkian, Juliana Alves
Data de Publicação: 2021
Outros Autores: 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
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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spelling 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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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/220903
dc.identifier.issn.pt_BR.fl_str_mv 1415-4757
dc.identifier.nrb.pt_BR.fl_str_mv 001123201
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dc.language.iso.fl_str_mv eng
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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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