Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.

Autor:	Josahkian JA; Hospital Universitário de Santa Maria, Unidade de Clínica Médica, Santa Maria, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil., Trapp FB; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Burin MG; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Michelin-Tirelli K; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Magalhães APPS; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Sebastião FM; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Bender F; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Mari JF; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil., Brusius-Facchin AC; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Leistner-Segal S; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil., Málaga DR; Grupo Fleury, Pesquisa e Desenvolvimento - Biologia Molecular, São Paulo, SP, Brazil., Giugliani R; Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil.; Rede MPS Brasil, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Experimental, Grupo de Pesquisa BIODISCOVERY, Porto Alegre, RS, Brazil.; Universidade Federal do Rio Grande do Sul, Departamento de Genética, Porto Alegre, RS, Brazil.; Instituto Nacional de Genética Médica Populacional (INAGEMP), Porto Alegre, RS, Brazil.; Hospital de Clínicas de Porto Alegre, Centro de Pesquisa Clínica, Grupo de Pesquisa DRBRASIL, Porto Alegre, RS, Brazil.
Jazyk:	angličtina
Zdroj:	Genetics and molecular biology [Genet Mol Biol] 2021 Jan 27; Vol. 44 (1), pp. e20200138. Date of Electronic Publication: 2021 Jan 27 (Print Publication: 2021).
DOI:	10.1590/1678-4685-GMB-2020-0138
Abstrakt:	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.
Databáze:	MEDLINE
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