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Publication
Vigilância de síndromes com anomalias congénitas que afetam múltiplos sistemas: dados do Registo Nacional de Anomalias Congénitas para os anos 2000 a 2013
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Advisor(s)
Abstract(s)
O Registo Nacional de Anomalias Congénitas (RENAC) recebe notificações
da ocorrência de anomalias congénitas diagnosticadas até ao final do 1º
mês de vida, algumas das quais são raras. Foi realizado um estudo observacional,
transversal, com a finalidade de descrever a epidemiologia dos
registos de anomalias congénitas que constituem uma síndrome genética
rara, utilizando os dados do RENAC entre 2000-2013. Observou-se uma
prevalência de 1,17 casos/10 000 nascimentos de indivíduos com síndrome
genética rara com anomalias que afetam múltiplos sistemas. Estas patologias
representam um pequeno grupo do universo das doenças raras. No
total das síndromes estudadas (n=171), a maior frequência observou-se
no grupo de síndromes que afetam predominantemente o aspeto da face
(50,9%) e, neste grupo, destacam-se a Sequência de Pierre Robin (26,3%) e
a Síndrome de Goldenhar (11,7%). No grupo de outras síndromes genéticas,
a Síndrome de DiGeorge foi diagnosticada em 12,3% dos casos. Dada a
inexistência de um registo nacional de doenças raras, os dados do RENAC
podem contribuir para avaliar a prevalência de algumas destas doenças.
Contudo para uma melhor vigilância de algumas doenças raras, o prazo de
registo será alargado até ao ano de idade de modo a permitir que situações
mais complexas possam ser identificadas e registadas.
The Portuguese National Registry of Congenital Anomalies (RENAC) receives notification of the occurrence of congenital anomalies detected at the end of the 1st month of life and some of them are rare. An observational, descriptive, cross-sectional study using data from RENAC between 2000-2013 was conducted with the purpose of describing the epidemiology of cases with rare genetic syndromes affecting multiple systems. There was a prevalence of 1.17 cases/10 000 births of individuals with rare genetic syndromes with congenital malformation affecting multiple systems, a small group of syndromes in the rare diseases field. Considering all genetic syndromes notified (n=171), 50.9% of cases were observed in the sub-group of congenital malformation syndromes predominantly affecting facial appearance. Within this subgroup Pierre Robin Sequence was diagnosed in 26.3 % of cases and the Goldenhar syndrome in 11.7%. In another sub-group, DiGeorge syndrome was diagnosed in 12.3% of cases. Given that at the moment there is no national rare diseases registry, RENAC data are useful for assessing the prevalence of some rare diseases. To improve rare diseases’ surveillance, notification to RENAC will be extended until the end of the 1st year of life in order to allow more complex situations to be identified and registered.
The Portuguese National Registry of Congenital Anomalies (RENAC) receives notification of the occurrence of congenital anomalies detected at the end of the 1st month of life and some of them are rare. An observational, descriptive, cross-sectional study using data from RENAC between 2000-2013 was conducted with the purpose of describing the epidemiology of cases with rare genetic syndromes affecting multiple systems. There was a prevalence of 1.17 cases/10 000 births of individuals with rare genetic syndromes with congenital malformation affecting multiple systems, a small group of syndromes in the rare diseases field. Considering all genetic syndromes notified (n=171), 50.9% of cases were observed in the sub-group of congenital malformation syndromes predominantly affecting facial appearance. Within this subgroup Pierre Robin Sequence was diagnosed in 26.3 % of cases and the Goldenhar syndrome in 11.7%. In another sub-group, DiGeorge syndrome was diagnosed in 12.3% of cases. Given that at the moment there is no national rare diseases registry, RENAC data are useful for assessing the prevalence of some rare diseases. To improve rare diseases’ surveillance, notification to RENAC will be extended until the end of the 1st year of life in order to allow more complex situations to be identified and registered.
Description
Keywords
Doenças Raras Doenças Genéticas Programas e Registos Anomalias Congénitas Estados de Saúde e de Doença Registo de Anomalias congénitas RENAC Saúde Pública Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2015;5(Supl 7):8-11
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP