Prevalence of Genetic Diseases in Four Basic Health Units Located in Bahia State

Abstract

As doencas geneticas afetam cerca de 3 a 10% da populacao mundial e representam um importante causa de morbimortalidade infantil no Brasil. Diante dessa realidade, tornam-se necessarios estudos mais aprofundados sobre as caracteristicas clinicas e epidemiologicas dessas doencas para um sistema de saude mais efetivo e abrangente. O objetivo desse estudo foi analisar a prevalencia de doencas geneticas nos pacientes atendidos em quatro Unidades Basicas de Saude (UBS), localizadas no municipio de Paulo Afonso, Bahia. Trata-se de um estudo quantitativo, exploratorio e documental, baseado em dados secundarios obtidos por meio de consulta aos prontuarios dos usuarios assistidos por quatro UBS, durante o periodo de 2015 a 2018. Os dados encontrados foram apresentados na forma de numeros absolutos e relativos, considerando uma prevalencia estimada de 10% na populacao em geral, um erro de amostragem relativo a 5% e um nivel de confianca de 95%. As doencas com maiores prevalencias foram a sindrome de Down (27,78%), fenda palatina (16,67%), doenca de Crohn, traco falciforme e epilepsia (11,10%, cada). As demais doencas geneticas apresentaram apenas um caso (5,56%). Evidenciou-se uma diferenca significativa na proporcao de doencas geneticas entre as comunidades estudadas (χ2 = 13,32; p = 0,003). \n\xa0 \nPalavras-chave: Genetica Comunitaria. Atencao Primaria. Desordens Geneticas. Dados Secundarios Medicos. Doencas Hereditarias. \n\xa0 \nAbstract \nGenetic diseases affect about 3 to 7% of the world population and represent an important cause of infant morbidity and mortality in Brazil. Thinking of this reality, more in-depth studies on the clinical and epidemiological characteristics of these diseases are necessary for the implementation of a more effective and comprehensive health system. The objective of this study was to analyze the prevalence of genetic diseases in patients treated at four Basic Health Units (BHU), located in the city of Paulo Afonso, Bahia. This is a quantitative, exploratory and documentary study, based on secondary data obtained by consulting the users’ medical records assisted by four BHU, during the period from 2015 to 2018. The data were presented as both absolute and relative values, considering an estimated prevalence of 10% in the general population, a sampling error relative of 5% and a confidence level of 95%. It was noticed for the prevalenceof\xa0three\xa0noted\xa0disturbances\xa0in primary health clinics: Down’s syndrome, cleft palate and epilepsy. The disease with the highest prevalence was Down’s syndrome (27.78%), followed by cleft palate (16.67%), then Crohn s Disease, sickle cell trait, and epilepsy (11.10% each). The other genetic diseases presented only one case each (5.56%). It was evidenced that there is a difference in the proportion of genetic diseases among the studied communities (χ2 = 13.32; p = 0.003). \n\xa0 \nKeywords: Community Genetics. Primary Attention. Genetic Disorders. Medical Secondary Data. Hereditary Diseases.