CAJ | 학술논문

目的：对大连市金州区37846例新生儿苯丙酮尿症（ PKU）和先天性甲状腺功能减低症（ CH）两病筛查进行回顾性分析，探讨新生儿两病筛查率和新生儿两病患病率。方法将2003至2012年大连市金州区新生儿疾病筛查资料进行收集整理分析，总结10年间两病筛查率和患病率的变化趋势。结果2003至2012年金州区新生儿疾病筛查率为98．7％，高于大连市平均水平的95．6％，经比较差异有统计学意义（χ2＝795．263，P＜0．01）；筛查率呈总体上升趋势（趋势χ2＝227．790，P＜0．01）。先天性甲状腺功能减低症的发病率为0．42‰（1/2365），略高于大连市平均水平0．41‰（1/2451）；苯丙酮尿症发病率为0．13‰（1/7569），略低于大连市平均水平0．15‰（1/6491），经比较差异均无统计学意义（均P＞0．05）。结论大连市金州区新生儿疾病筛查率呈较高水平，CH与PKU患病率均接近大连市的平均水平。两病筛查使CH和PKU患儿得到了早确诊、早治疗，避免了体格和智力障碍，提高了全区儿童的生存质量。
목적：대대련시금주구37846례신생인분병동뇨증（ PKU）화선천성갑상선공능감저증（ CH）량병사사진행회고성분석，탐토신생인량병사사솔화신생인량병환병솔。방법장2003지2012년대련시금주구신생인질병사사자료진행수집정리분석，총결10년간량병사사솔화환병솔적변화추세。결과2003지2012년금주구신생인질병사사솔위98．7％，고우대련시평균수평적95．6％，경비교차이유통계학의의（χ2＝795．263，P＜0．01）；사사솔정총체상승추세（추세χ2＝227．790，P＜0．01）。선천성갑상선공능감저증적발병솔위0．42‰（1/2365），략고우대련시평균수평0．41‰（1/2451）；분병동뇨증발병솔위0．13‰（1/7569），략저우대련시평균수평0．15‰（1/6491），경비교차이균무통계학의의（균P＞0．05）。결론대련시금주구신생인질병사사솔정교고수평，CH여PKU환병솔균접근대련시적평균수평。량병사사사CH화PKU환인득도료조학진、조치료，피면료체격화지력장애，제고료전구인동적생존질량。
Objective To retrospectively analyze the district-wide screening for phenylketonuria (PKU) and congenital hypothyroidism ( CH) among 37 846 newborns in Dalian Jinzhou District and explore the screening rate and prevalence of these two diseases .Methods The neonatal screening analysis data from 2003 to 2012 were collected and analyzed to summarize the changes of screening rate and prevalence rate in 10 years.Results The neonatal disease screening rate in Jinzhou District was 98.7%, which was higher than the average rate in Dalian (95.6%).The difference was significant (χ2 =795.263, P<0.01).Screening rate had an overall upward trend (χ2 =227.790,P<0.01).The incidence of CH was 0.42 per thousand (1/2 365), which was slightly higher than the average level in Dalian (0.41‰, 1/2 451).The incidence of PKU was 0.13 per thousand (1/7 569), which was slightly lower than the average level in Dalian (0.15‰, 1/6 491).The differences were not significant (both P>0.05).Conclusion Neonatal disease screening rate in Jinzhou District is relatively high , and the prevalence of CH and PKU is close to average level of Dalian .Screening of these two diseases ensure early diagnosis and early treatment , which helps to avoid physical and mental disability and improve the life quality of children in whole district .