School of Public Health, National Defense Medical Center, Taipei, Taiwan.
Res Dev Disabil. 2013 Jan;34(1):133-8. doi: 10.1016/j.ridd.2012.08.004. Epub 2012 Aug 30.
This paper aims to describe a general demographic picture of patients with rare diseases in Taiwan and particularly focuses on the prevalence of rare diseases over time, age and gender distributions. We analyzed data mainly from the national disability registry from 2002 to 2011 in Taiwan, Republic of China. The results showed that the number of rare diseases increased from 93 to 193 between 2002 and 2011 and that the prevalence of rare diseases increased from 0.02 to 0.74 per 10,000 people in this time period. The gender ratio (male/female) was between 1.02 and 1.13 during this time period, with male cases representing a higher percentage than female cases in the rare disease population. The occurrence of rare diseases was significantly increased in children 3-5 years of age and elementary school children 6-14 years of age. The data also revealed that the occurrence of rare diseases in Taiwan was attributed primarily to pathogenic diseases and secondarily to genetic diseases. To obtain precise epidemiological data on rare diseases for future healthcare planning, this study highlights the importance of the cooperation of healthcare authorities with the social welfare department to strengthen the ability of the public healthcare system to regularly monitor and measure the occurrence of rare diseases in the community.
本文旨在描述台湾罕见病患者的一般人口统计学特征，尤其关注罕见病随时间、年龄和性别分布的流行情况。我们分析了中国台湾地区 2002 年至 2011 年国家残疾登记数据。结果表明，2002 年至 2011 年期间，罕见病的数量从 93 种增加到 193 种，罕见病的患病率从每 10,000 人 0.02 人增加到 0.74 人。在此期间，性别比（男/女）在 1.02 到 1.13 之间，罕见病人群中男性病例的比例高于女性病例。罕见病在 3-5 岁儿童和 6-14 岁小学生中发生率明显增加。数据还显示，台湾罕见病的发生主要归因于病原性疾病，其次是遗传性疾病。为了获得未来医疗保健规划中罕见病的精确流行病学数据，本研究强调了医疗保健当局与社会福利部门合作的重要性，以加强公共医疗系统定期监测和衡量社区中罕见病发生的能力。
