Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
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de Oliveira Bibiana Mello, Bernardi Filipe Andrade, Baiochi João Francisco, Neiva Mariane Barros, Artifon Milena, Vergara Alberto Andrade, Martins Ana Maria, Grumach Anete Sevciovic, Acosta Angelina Xavier, Husny Antonette Souto El, de Freitas Rodrigues Ribeiro Bethania, Ramos Camila Ferreira, Steiner Carlos Eduardo, Kim Chong Ae, Christofolini Denise Maria, Yamada Diego Bettiol, Carvalho Ellaine Doris Fernandes, Ribeiro Erlane Marques, de Arruda Bastos Fabíola, Serpa Faradiba Sarquis, Brandão Flávia Reseda, Adjuto Giselle Maria Araujo Felix, Carvalho Isabelle, Saute Jonas Alex Morales, Junior Juan Clinton Llerena, Bueno Larissa Souza Mario, da Silva Luiz Carlos Santana, Santos Mara Lucia Schmitz Ferreira, Costa Marcela Câmara Machado, Giusti Marcia Maria Costa Giacon, Galera Marcial Francis, Filho Márcio Eloi Colombo, de Andrade Maria Denise Fernandes Carvalho, De Oliveira Cardoso Maria Teresinha, de Menezes Ferreira Marilaine Matos, Zeny Michelle, Caldato Milena Coelho Fernandes, Sorte Ney Boa, Musolino Nina Rosa de Castro, de Medeiros Paula Frassinetti Vasconcelos, Zen Paulo Ricardo Gazzola, Da Silva Raquel Tavares Boy, Maia Rayana Elias, Fock Rodrigo, Almeida Rosemarie Elizabeth Schimidt, Valle Solange Oliveira Rodrigues, Amorim Tatiana, Teixeira Thaís Bomfim, Prazeres Vania Mesquita Gadelha, de Faria Ferraz Victor Evangelista, Lima Vinicius Costa, Paiva Wagner José Martins, Schwartz Ida Vanessa Doederlein, Alves Domingos, Félix Têmis Maria, Raras Network Group
Аннотация
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.