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Anemia de Fanconi em Portugal: estudo retrospetivo de 34 anos de investigação no INSA (1980-2014)
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Advisor(s)
Abstract(s)
A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência
estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase
por malformações congénitas, falência medular e hipersensibilidade
a agentes clastogénicos de DNA. Devido à grande complexidade desta
patologia a primeira abordagem de diagnóstico, consiste na análise da
instabilidade cromossómica, após cultura celular com estimulação com
agentes clastogénicos diepoxibutano (DEB) ou mitomicina C (MMC). Realizou-
se um estudo retrospetivo de 34 anos (1980-2014) em 243 amostras
com suspeita de AF e de 25 amostras de familiares de doentes de
AF, num total de 268 amostras. Nas 243 amostras suspeitas de Anemia
de Fanconi, foram identificadas 37 com AF. A idade média ao diagnóstico
foi de 7 anos, existindo um ligeiro predomínio da incidência no sexo
feminino (59%). Uma amostra foi classificada como AF(-/+). Nos familiares
de doentes com AF foram identificados 2 casos positivos, o que
perfaz 39 amostras de AF positivas. Em quatro das amostras AF negativas,
observaram-se cariotipos anormais. Estes resultados não permitem
estimar uma frequência de doentes de AF em Portugal, uma vez que
não englobam indivíduos de todas as regiões portuguesas, mas permitem
uma estimativa da frequência espectável.
Fanconi anemia (FA) is a rare recessive disease with an estimated frequency from 4 to 7 per 1 000 000 live births. It is characterized by congenital malformations, bone marrow failure and hypersensitivity to DNA clastogenic agents. Due to the great complexity of the pathology the first diagnostic approach is the analysis of chromosomal instability in cultured cells after stimulation with the clastogenic agents diepoxybutane (DEB) or mitomycin C (MMC). We performed a retrospective study of 34 years (1980-2014) in 243 samples suspected of FA and 25 samples from relatives of FA patients, totalizing 268 samples. In 243 suspected samples 37 were confirmed to be FA. The average age at diagnosis was 7 years, with a slight predominant incidence in females (59%). One sample was classified as FA (-/+). Among the patients’ relatives, 2 positive FA cases were identified totaling 39 positive samples. In four negative samples of suspected FA, abnormal karyotypes were observed. Since these samples are not representative of individuals from all Portuguese regions, the data only allow estimating the frequency of FA in Portugal.
Fanconi anemia (FA) is a rare recessive disease with an estimated frequency from 4 to 7 per 1 000 000 live births. It is characterized by congenital malformations, bone marrow failure and hypersensitivity to DNA clastogenic agents. Due to the great complexity of the pathology the first diagnostic approach is the analysis of chromosomal instability in cultured cells after stimulation with the clastogenic agents diepoxybutane (DEB) or mitomycin C (MMC). We performed a retrospective study of 34 years (1980-2014) in 243 samples suspected of FA and 25 samples from relatives of FA patients, totalizing 268 samples. In 243 suspected samples 37 were confirmed to be FA. The average age at diagnosis was 7 years, with a slight predominant incidence in females (59%). One sample was classified as FA (-/+). Among the patients’ relatives, 2 positive FA cases were identified totaling 39 positive samples. In four negative samples of suspected FA, abnormal karyotypes were observed. Since these samples are not representative of individuals from all Portuguese regions, the data only allow estimating the frequency of FA in Portugal.
Description
Keywords
Doenças Raras Doenças Genéticas Anemia de Fanconi Saúde Pública Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2015;5(Supl 7):44-47
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP