Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Autor: de Oliveira BM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Postgraduation Program in Genetics and Molecular Biology, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil., Bernardi FA; Engineering School of São Carlos, Bioengineering Department, University of São Paulo, São Carlos, SP, Brazil., Baiochi JF; Ribeirão Preto Medical School, University of São Paulo, Ribeirão Prêto, SP, Brazil., Neiva MB; Institute of Mathematics and Computer Sciences, São Carlos Campus, University of São Paulo, São Carlos, SP, Brazil., Artifon M; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Vergara AA; Hospital Infantil João Paulo II, Belo Horizonte, MG, Brazil., Martins AM; Hospital São Paulo, São Paulo, SP, Brazil., Grumach AS; Faculdade de Medicina do Centro Universitario FMABC, Santo André, SP, Brazil., Acosta AX; Hospital Universitário Prof. Edgar Santos and Faculdade de Medicina da Bahia da Universidade Federal da Bahia, Salvador, BA, Brazil., Husny ASE; Hospital Universitário Bettina Ferro de Souza, Universidade Federal Do Pará, Belém, PA, Brazil., de Freitas Rodrigues Ribeiro B; Fundação Hospital Estadual do Acre, Rio Branco, AC, Brazil., Ramos CF; Hospital Universitário Prof. Edgar Santos, Salvador, BA, Brazil., Steiner CE; Universidade Estadual de Campinas, Campinas, SP, Brazil., Kim CA; Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Christofolini DM; Faculdade de Medicina do Centro Universitario FMABC, Santo André, SP, Brazil., Yamada DB; Ribeirao Preto Medical School, University of Sao Paulo, Ribeirão Prêto, SP, Brazil., Carvalho EDF; Hospital Geral Dr. César Cals, Fortaleza, CE, Brazil., Ribeiro EM; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil., de Arruda Bastos F; Centro Universitário do Estado do Pará, Belém, PA, Brazil., Serpa FS; Hospital Santa Casa de Misericórdia de Vitória, Vitória, ES, Brazil., Brandão FR; Centro de Diabetes e Endocrinologia da Bahia, Salvador, BA, Brazil., Adjuto GMAF; Hospital de Apoio de Brasília, Brasília, DF, Brazil., Carvalho I; Institute of Mathematics and Computer Sciences, São Carlos Campus, University of São Paulo, São Carlos, SP, Brazil., Saute JAM; Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Junior JCL; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/Fiocruz, Rio de Janeiro, RJ, Brazil., Bueno LSM; Maternidade Climério de Oliveira, Salvador, BA, Brazil., da Silva LCS; Hospital Universitário Bettina Ferro de Souza, Universidade Federal Do Pará, Belém, PA, Brazil., Santos MLSF; Hospital Pequeno Príncipe, Curitiba, PR, Brazil., Costa MCM; Escola Bahiana de Medicina e Saúde Pública, Salvador, BA, Brazil., Giusti MMCG; Instituto Jô Clemente, São Paulo, SP, Brazil., Galera MF; Hospital Universitário Júlio Müller, Cuiabá, MT, Brazil., Filho MEC; Engineering School of São Carlos, Bioengineering Department, University of São Paulo, São Carlos, SP, Brazil., de Andrade MDFC; Hospital Universitário Walter Cantídio, Universidade Estadual do Ceará, Fortaleza, CE, Brazil., De Oliveira Cardoso MT; Hospital de Apoio de Brasília, Brasília, DF, Brazil.; Hospital Materno Infantil de Brasília, Brasília, DF, Brazil., de Menezes Ferreira MM; Escola Bahiana de Medicina e Saúde Pública, Salvador, BA, Brazil., Zeny M; Hospital Pequeno Príncipe, Curitiba, PR, Brazil., Caldato MCF; Centro Universitário do Pará, Belém, PA, Brazil., Sorte NB; Hospital Universitário Prof. Edgar Santos, Salvador, BA, Brazil., Musolino NRC; Instituto de Psiquiatria Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., de Medeiros PFV; Unidade Acadêmica de Medicina, Centro de Ciências Biológicas e de Saúde, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, Campina Grande, PB, Brazil., Zen PRG; Hospital da Criança Santo Antônio, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil., Da Silva RTB; Hospital Universitário Pedro Ernesto, Rio de Janeiro, RJ, Brazil., Maia RE; Hospital Universitário Lauro Wanderley, João Pessoa, PB, Brazil., Fock R; Hospital São Paulo, São Paulo, SP, Brazil., Almeida RES; Universidade Estadual de Londrina, Londrina, PR, Brazil., Valle SOR; Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, RJ, Brazil., Amorim T; Associação de Pais e Amigos dos Excepcionais de Salvador, Salvador, BA, Brazil., Teixeira TB; Associação de Pais e Amigos dos Excepcionais de Anápolis, Anápolis, GO, Brazil., Prazeres VMG; Policlínica Codajás, Manaus, AM, Brazil., de Faria Ferraz VE; Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo, Ribeirão Prêto, SP, Brazil., Lima VC; Health Intelligence Laboratory, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Prêto, SP, Brazil., Paiva WJM; Universidade Estadual de Londrina, Londrina, PR, Brazil., Schwartz IVD; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Postgraduation Program in Genetics and Molecular Biology, Federal University of Rio Grande Do Sul, Porto Alegre, RS, Brazil., Alves D; Ribeirão Preto Medical School, University of São Paulo, Ribeirão Prêto, SP, Brazil.; Department of Social Medicine, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Prêto, SP, Brazil., Félix TM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil. tfelix@hcpa.edu.br.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 30; Vol. 19 (1), pp. 405. Date of Electronic Publication: 2024 Oct 30.
DOI: 10.1186/s13023-024-03392-7
Abstrakt: Background: The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive nationwide epidemiological investigation of individuals with RDs in Brazil. This retrospective survey collected data from patients receiving care in 34 healthcare facilities affiliated with RARAS in 2018 and 2019.
Results: The survey included 12,530 participants with a median age of 15.0 years, with women representing 50.5% of the cohort. Classification according to skin color demonstrated that 5044 (47.4%) participants were admixed. Most had a confirmed diagnosis (63.2%), with a predominance of phenylketonuria (PKU), cystic fibrosis (CF), and acromegaly. Common clinical manifestations included global developmental delay and seizures. The average duration of the diagnostic odyssey was 5.4 years (± 7.9 years). Among the confirmed diagnoses, 52.2% were etiological (biochemical: 42.5%; molecular: 30.9%), while 47.8% were clinical. Prenatal diagnoses accounted for 1.2%. Familial recurrence and consanguinity rates were 21.6% and 6.4%, respectively. Mainstay treatments included drug therapy (55.0%) and rehabilitation (15.6%). The Public Health System funded most diagnoses (84.2%) and treatments (86.7%). Hospitalizations were reported in 44.5% of cases, and the mortality rate was 1.5%, primarily due to motor neuron disease and CF.
Conclusion: This study marks a pioneering national-level data collection effort for rare diseases in Brazil, offering novel insights to advance the understanding, management, and resource allocation for RDs. It unveils an average diagnostic odyssey of 5.4 years and a higher prevalence of PKU and CF, possibly associated with the specialized services network, which included newborn screening services.
(© 2024. The Author(s).)
Databáze: MEDLINE
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