Cho Won Kyoung, Lee Na Young, Han Kyungdo, Suh Byung-Kyu, Park Yong-Gyu
Department of Pediatrics, College of Medicine, St. Vincent's Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
Department of Biostatistics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Clin Epidemiol. 2020 May 27;12:519-525. doi: 10.2147/CLEP.S251637. eCollection 2020.
In the present study, we estimated the population prevalence, associations of congenital heart defect (CHD) and mortality risk for DS using data from National Health Insurance Service (NHIS) and Rare Diseases Registry (RDR).
We collected data on subjects with DS who were registered in the RDR between 2010 and 2015. To estimate associations of CHD and mortality risk of DS, the data of DS subjects were compared with 1:5 age- and sex-matched controls.
In 2015, 2077 individuals with DS were identified out of the total population of 51,574,044 South Koreans and the prevalence was 4.03 per 100,000 persons. The trend of DS population prevalence across 10-year-old intervals showed a peak in the group under the age of 10 years (26.0 per 100,000 persons) and then declined sharply after the age of 20 years (0.98 per 100,000 persons at 30-39 years of age). In subjects with DS, the frequencies of atrial septal defect [odds ratios (OR) =65.9; 95% CI, 84.1-99.1], ventricular septal defect (OR = 88.1, 95% CI, 57.9-134.1), patent ductus arteriosus (OR = 56.9, 95% CI, 40.1-80.8), tetralogy of fallot (OR = 42.1, 95% CI, 19.3-92.3), or atrioventricular septal defect (OR = 510.0, 95% CI, 126.7-999.0) were higher than those of age- and sex-matched controls. The risk of death in patients with DS was significantly higher than that of age- and sex-matched controls [hazard ratio (HR) =41.7, 95% CI 20.0-87.0].
In South Korea, the DS population prevalence was 4.03 per 100,000 persons in 2015. The subjects with DS were more likely to accompany CHD and have higher mortality risk than healthy controls.
在本研究中，我们利用韩国国民健康保险服务（NHIS）和罕见病登记处（RDR）的数据，估算了唐氏综合征（DS）的人群患病率、先天性心脏病（CHD）的相关性以及死亡风险。
我们收集了2010年至2015年间在RDR登记的DS患者的数据。为了评估CHD与DS死亡风险的相关性，将DS患者的数据与年龄和性别匹配的对照组（比例为1:5）进行比较。
2015年，在韩国51574044人的总人口中，共识别出2077例DS患者，患病率为每10万人中4.03例。按10岁年龄区间划分的DS人群患病率趋势显示，10岁以下年龄组达到峰值（每10万人中26.0例），20岁以后则急剧下降（30 - 39岁年龄组为每10万人中0.98例）。在DS患者中，房间隔缺损[比值比（OR）=65.9；95%置信区间（CI），84.1 - 99.1]、室间隔缺损（OR = 88.1，95% CI，57.9 - 134.1）、动脉导管未闭（OR = 56.9，95% CI，40.1 - 80.8）、法洛四联症（OR = 42.1，95% CI，19.3 - 92.3）或房室间隔缺损（OR = 510.0，95% CI，126.7 - 999.0）的发生频率高于年龄和性别匹配的对照组。DS患者的死亡风险显著高于年龄和性别匹配的对照组[风险比（HR）=41.7，95% CI 20.0 - 87.0]。
在韩国，2015年DS人群患病率为每10万人中4.03例。与健康对照组相比，DS患者更易伴有CHD且死亡风险更高。
