PDF(Pubmed)
Abstract：
Epidemiological data on rare diseases in China are currently limited. The objective of this study was to provide a comprehensive understanding of the prevalence and incidence of rare diseases by systematically analyzing the available epidemiological data. We conducted a comprehensive search of English and Chinese databases, the Incidence and Prevalence Database, the Chinese Rare Disease Guideline, and the Taiwan Health Promotion Administration from 2010 to 2023. We identified the top diseases and regions based on epidemiological data and present the maximum, minimum, and median prevalence and incidence values in tables and forest plots. 1,264 prevalence and incidence data were retrieved from 277 studies, guidelines and official websites, covering 110 rare diseases (53.1%) and 32 regions (94.1%). In terms of geographical regions, incidence or prevalence data were available for 32 regions (94.1%), excluding Tibet Hui Autonomous Region and Macao Special Administrative Region. In terms of rate, 60 and 77 out of 207 diseases (29.0% and 37.2%) had available incidence and prevalence data, respectively. Eight diseases had an incidence rate equal to or greater than that of 1,000 patients per million. The present study provides a comprehensive epidemiological analysis and valuable insights into the prevalence and incidence of rare diseases in China. Our findings underscore the pressing need for sustained drug research and medical support for individuals and families impacted by rare diseases.
摘要：
中国罕见疾病的流行病学数据目前有限。这项研究的目的是通过系统分析现有的流行病学数据，全面了解罕见病的患病率和发病率。我们对英汉数据库进行了全面检索,发病率和患病率数据库，中国罕见病指南,2010年至2023年，台湾健康促进管理局。我们根据流行病学数据确定了最主要的疾病和地区，并提出了最大的疾病，minimum,以及表格和森林地块中的患病率和发病率中值。从277项研究中检索了1,264项患病率和发病率数据，指南和官方网站，覆盖110例罕见病(53.1%)和32个地区(94.1%)。就地理区域而言,有32个地区的发病率或患病率数据(94.1%)，不包括西藏自治区和澳门特别行政区。在费率方面,207种疾病中有60种和77种(29.0%和37.2%)有可用的发病率和患病率数据,分别。八种疾病的发病率等于或大于每百万患者的1,000。本研究为中国罕见病的流行和发病率提供了全面的流行病学分析和有价值的见解。我们的发现强调了对受罕见疾病影响的个人和家庭进行持续药物研究和医疗支持的迫切需要。
