CAJ | 학술논문

目的回顾性分析2010年1月-2010年9月,我院新生儿先天性肾上腺皮质增生症(CAH)的筛查数据,初步探讨不同性别、出生孕周及体重的新生儿17-羟孕酮(17-OHP)分布情况,并结合临床确诊病例,设定合理的筛查切值.方法采用时间分辨荧光免疫分析方法检测新生儿末稍血17-OHP浓度,采用百分位数法确定切值.结果新生儿筛查的17-OHP检测水平呈偏态分布；不同性别、体重及孕周的17-OHP亦有显著性差异；根据稳健回归统计发现孕周与170HP的相关性最好,所以在设定切值时分设早产儿和足月儿即可.早产新生儿(＜37周)17-OHP的99％百分位数值为66.1 nmol/L;正常孕周(≥37周)新生儿17-OHP的99％百分位数值为26.6 nmol/L,与早产新生儿组差异有显著性(P＜0.01).本文跟踪统计了从2010年1月到2011年8月间筛查的88061例活产新生儿,一共确诊了17例CAH,其中失盐型2例,发病率为1/44030;单纯男化型1例,发病率为1/88 061；非典型14例,发病率为1/6290.结论中山地区的CAH发病率明显低于全国水平.用统一的17-OHP切值30 nmol/L对新生儿CAH筛查结果有一定影响,建议早产儿筛查切值为60 nmol/L,以减少假阳性率和召回率.
목적 회고성분석2010년1월-2010년9월,아원신생인선천성신상선피질증생증(CAH)적사사수거,초보탐토불동성별、출생잉주급체중적신생인17-간잉동(17-OHP)분포정황,병결합림상학진병례,설정합리적사사절치.방법 채용시간분변형광면역분석방법검측신생인말초혈17-OHP농도,채용백분위수법학정절치.결과 신생인사사적17-OHP검측수평정편태분포；불동성별、체중급잉주적17-OHP역유현저성차이；근거은건회귀통계발현잉주여170HP적상관성최호,소이재설정절치시분설조산인화족월인즉가.조산신생인(＜37주)17-OHP적99％백분위수치위66.1 nmol/L;정상잉주(≥37주)신생인17-OHP적99％백분위수치위26.6 nmol/L,여조산신생인조차이유현저성(P＜0.01).본문근종통계료종2010년1월도2011년8월간사사적88061례활산신생인,일공학진료17례CAH,기중실염형2례,발병솔위1/44030;단순남화형1례,발병솔위1/88 061；비전형14례,발병솔위1/6290.결론 중산지구적CAH발병솔명현저우전국수평.용통일적17-OHP절치30 nmol/L대신생인CAH사사결과유일정영향,건의조산인사사절치위60 nmol/L,이감소가양성솔화소회솔.
Objective To make a retrospective analysis on the hospital congenital adrenal hyperplasia (CAH) screening data from January 2010 to September 2010,a preliminary study of different gender,gestational age and birth weight of newborns 17-hydroxyprogesterone (17-OHP) distribution,and clinical diagnosis of cases,and set a reasonable screening cut value.Methods We used DELFIA method to detect neonatal peripheral blood 17-OHP concentrations,and used the percentile method to determine the cut value.Results Newborn screening of (17-OHP levels were detected skewed distribution.There were significant differences between different gender,weight and gestational age.According to robust regression statistics gestational age has the best correlation with 17-OHP.So just set cut values grouped premature neonates and normal gestational age newborn.Premature neonates ( ＜ 37W) 17-OHP 99％ percentile value 66.1 nmol/L.Normal gestational age (≥ 37W) newborn 17-OHP 99％ percentile values was 26.6 nmol/L.Followed by tracking statistics from January 2010 to August 2011,17 cases of CAH diagnosed among the 88,061 cases of live births screened newborn,classic type 2 cases,the incidence rate of 1/44030; simple of man in 1 case,the incidence rate of 1/88061; atypical in 14 cases,the incidence rate of 1/6290.Conclusion Zhongshan areas of CAH incidence was significantly lower than the national level.Using a uniform 17-OHP cut value 30 nmol/L for newborn CAH has a certain influence to screening results,it is recommended screening cut-off point of premature neonates should be 60 nmol/L,in order to reduce the false positive rate and recall rate.