Carvalho Everson Andrade de, Hopker Roberto Del Claro, Pedroso Gustavo Henrique, Almeida Leonardo Silva de, Pacher José Alfredo Trevisan, Antônio André Lucas Miranda, Souza Josiane de, Zeny Michelle Silva, Santos Mara Lúcia Schmitz Ferreira, Valle Daniel Almeida do, Andrade Fabiana Antunes
Universidade Positivo, Departamento de Medicina, Curitiba, PR, Brazil.
Hospital Pequeno Príncipe, Ambulatório de Doenças Raras, Curitiba, PR, Brazil.
Epidemiol Serv Saude. 2024 Dec 20;33:e20240204. doi: 10.1590/S2237-96222024v33e20240204.en. eCollection 2024.
To 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.
This 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.
The 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.
Diagnosis 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.
分析巴西卫生部认可的罕见病首次转诊服务，重点关注从基层医疗网络到诊断的转诊情况。
这是一项描述性研究，研究对象为2016年至2021年期间在巴西巴拉那州库里蒂巴一家转诊医院接受治疗的患者。临床和流行病学数据从病历中获取，医院临床分析实验室的基因检测结果也一并获取。定性数据以绝对频率和相对频率表示，定量数据以中位数和四分位间距表示，并使用Kruskal-Wallis检验进行比较。
该研究纳入了1751例病例，其中34.1%被诊断为罕见病，诊断前的平均时间为3.0年，其中II型黏多糖贮积症（4.0%）和结节性硬化症（3.9%）最为常见。与居住在库里蒂巴市及其大都市区的患者相比，巴拉那州内陆地区的患者获得诊断的时间更长（p值为0.004），接受专科护理的时间也更长（p值<0.001）。
约三分之一的病例被诊断为罕见病。诊断前的平均时间表明实施转诊服务可能产生了积极影响。巴拉那州内陆地区患者诊断和接受专科护理的时间较长，这在向专科服务机构进行充分转诊方面构成了挑战。
