ArticleEpidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil2024
Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.
Article in Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo analyze the first referral service for rare diseases accredited by the Brazilian Ministry of Health, focusing on referral from the primary healthcare network through to diagnosis.
methodsThis is a descriptive study with patients treated between 2016 and 2021 at a referral hospital service located in Curitiba, Paraná, Brazil. Clinical and epidemiological data were obtained from medical records, as were the results of genetic tests at the hospital's clinical analysis laboratory. Qualitative data were expressed as absolute and relative frequencies, while quantitative data were expressed as medians and interquartile ranges and compared using the Kruskal-Wallis test.
resultsThe study included 1,751 cases, 34.1% were diagnosed with rare diseases, with average time until diagnosis being 3.0 years, whereby mucopolysaccharidosis type II (4.0%) and tuberous sclerosis (3.9%) were the most common. Greater length of time for obtaining diagnosis (p-value 0.004) and receiving specialized care (p-value<0.001) was found in patients from the interior region of Paraná state, compared to those residing in Curitiba city and its metropolitan region.
conclusionDiagnosis of rare diseases occurred in approximately one third of cases. The average time until diagnosis suggests a possible positive impact of implementing the referral service. The longer time until diagnosis and specialized care found among patients from the interior region of Paraná represent challenges regarding adequate referral to specialized services.
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