Produção Nacional
Revisado por pares
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
2022; BioMed Central; Volume: 17; Issue: 1 Linguagem: Inglês
10.1186/s13023-022-02254-4
ISSN1750-1172
AutoresTêmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida Vanessa Döederlein Schwartz, Jonas Alex Morales Saute, Victor Evangelista de Faria Ferraz, Angelina Xavier Acosta, Ney Boa‐Sorte, Domingos Alves, Tatiana Amorim, Gisele Maria Araujo Felix Adjuto, Rosemarie Elizabeth Schimidt Almeida, Flávia Resedá Brandão, Larissa Souza Mario Bueno, Maria Denise Fernandes Carvalho de Andrade, Cristina Cagliari, Maria Terezinha Cardoso, Ellaine Dóris Fernandes Carvalho, Marcela Câmara Machado Costa, Antonette S. El-Husny, Lavínia Schüler‐Faccini, Rodrigo Ambrósio Fock, Rodrigo Florêncio, Marcial Francis Galera, Roberto Giugliani, Liane de Rosso Giuliani, A. S. Grumach, Dafne Dain Gandelman Horovitz, Juan Clinton Llerena-Junior, Chong A. E. Kim, Rayana Elias Maia, Ana Maria Martins, Paula Frassinetti Vasconcelos de Medeiros, Nina Rosa de Castro Musolino, Marcelo Eidi Nita, Henrique Gil da Silva Nunesmaia, Jose Carlison Santos de Oliveira, Wagner José Martins Paiva, Helena Pimentel, Louise Lapagesse de Camargo Pinto, Vânia Mesquita Gadelha Prazeres, Betânia de Freitas Rodrigues Ribeiro, Erlane Marques Ribeiro, Márcia Rodrigues Jardim, Maria José Sparça Salles, Maria Teresa Vieira Sanseverino, Eliane Pereira dos Santos, Mara Lúcia Schmitz Ferreira Santos, Flávia Mori Sarti, Luiz Carlos Santana da Silva, Raquel Tavares Boy da Silva, Carlos Eduardo Steiner, Ana Beatriz Winter Tavares, Thais Bonfim Teixeira, A Vergara, Paulo Ricardo Gazzola Zen, Marcos Guimarães Zuchetti,
Tópico(s)Genomic variations and chromosomal abnormalities
ResumoAbstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.
Referência(s)