Table 1 National and international studies containing original epidemiological data on the incidence and/or prevalence of RD in Brazil
References | Title | Clinical condition | Region | Rate |
|---|---|---|---|---|
Costa-Motta et al. [10] | A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity | Mucopolysaccharidosis type VI | Monte Santo, Bahia | Carriers: 41:100 |
Munford et al. [11] | A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations | Variant xeroderma pigmentosum | Goias | 17:1000 |
Leadley et al. [12] | A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases | Morquio A syndrome | International | 1:1,179,000 |
Souza et al. [13] | BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia | BH4 deficiency | Minas Gerais | 2.1:1,000,000 |
Cardoso et al. [14] | Clusters of genetic diseases in Brazil | Rare diseases | Brazil | 1:235,000 |
Colombo et al. [15] | Epidemiology of candidemia in Brazil: a nationwide sentinel surveillance of candidemia in eleven medical centers | Candidemia | Brazil | 2.49:1,000 admissions; 0.37:1,000 patient-days* |
Khan et al. [16] | Epidemiology of mucopolysaccharidoses | Mucopolysaccharidoses | International | 1.04:100,000 |
de Azevedo Medeiros et al. [17] | High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil | Berardinelli-Seip | Rio Grande do Norte | 3.23:100,000 |
Walker et al. [18] | Huntington's disease-like disorders in Latin America and the Caribbean | Huntington's disease-like disorders | Rio Grande do Sul | 1.85:100,000 |
Hamerschlak et al. [19] | Incidence and risk factors for agranulocytosis in Latin American countries–the Latin Study: a multicenter study | Agranulocytosis | Latin America | 0.35:1,000,000 inhabitant–years* |
Hamerschlak et al. [20] | Incidence of aplastic anemia and agranulocytosis in Latin America—the LATIN study | Aplastic anemia and agranulocytosis | International | Aplastic anemia: 2.7:1,000,000 per year* Agranulocytosis: 0.5:1,000,000 per year* |
Raskin et al. [21] | Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients | Cystic fibrosis | Brazil | 1:7576* |
Bustamante-Teixeira et al. [22] | Incidence of rare cancers in the city of São Paulo, Brazil | Rare cancers | Sao Paulo | 365:100,000* |
Wagner et al. [23] | Neonatal screening for hemoglobinopathies: results of a public health system in South Brazil | Sickle cell disorder | Rio Grande do Sul | 1:9120* |
Botler et al. [24] | Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program | Phenylketonuria, congenital hypothyroidism and haemoglobinopathies | Rio de Janeiro | Sickle cell disease: 1:1,28* Congenital hypothyroidism: 1:1,030* Phenylketonuria: 1:28,427 to 1:16,522* |
Boton Pereira et al. [25] | Primary Immunodeficiencies in a Mesoregion of São Paulo, Brazil: Epidemiologic, Clinical, and Geospatial Approach | Primary Immunodeficiencies | Presidente Prudente mesoregion | 0.59:10,000* |
Balmant et al. [26] | Rare cancers in childhood and adolescence in Brazil: First report of data from 19 population-based cancer registries | Rare cancers | Brazil | Birth to 9 years: 5.19:1,000,000 10–14 years: 15.60:1,000,000 15–19 years: 29.72:1,000,000 |
Orioli et al. [27] | Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review | Sirenomelia | International | 0.98:100,000 |