潍坊地区新生儿先天性肾上腺皮质增生症的筛查结果分析山东省潍坊市妇幼保健院山东潍坊261011作者简介：鹿相花女，43岁。山东省潍坊市妇幼保健院。医学硕士，主治医师。内科学内分泌与代谢性疾病。摘要：目的探讨潍坊地区新生儿先天性肾上腺皮质增牛症(CAH)的发牛率及筛查指标的切值。方法选择2012年9月〜2016年3月潍坊市辖区内所有具备助产技术服务资质的医疗保健机构出牛的289888例活产新牛儿为筛查对象，检测滤纸干血片中17α-^孕酮(17α-OHP)水平,对于可疑新生儿召回复测,对复查阳性者综合考虑确定是否诊断CAHo比较正常新生儿及CAH患儿不同孕周、不同体重分组的干血/t17α-OHP水平。结果木研究共筛查289888例新牛儿，4443例新生儿疑似CAH,召回3488例，确诊19例，其中势15例，女4例，所有女婴均有外牛殖器畸形；17例为失盐型、2例为单纯男性化型。CAH组内,依据孕周≤32周、33-34周、35-36周、37-38周,体重≤1500g、1500-2500g、≥2500g的顺序，滤纸干血片17α-OHP水平均依次降低(t二3.95~21.07,P<0.05或0.01)。CAH组各孕周、各体重组患儿滤纸干血片17α-OHP水平均显著高于正常组新牛儿水平(1=9.67-29.55,P<0.01)o以所有受检新牛儿为统计样木量，滤纸干血片17α-OHP水平符合正态分布，取95%置信区间，测算得到滤纸干血片17α-OHP水平诊断CAH的切值为30nmol/L。结论潍坊地区的CAH发病率约为1：15257,其中低孕周、低出生体重新生儿罹患CAH的比例较高，木地区诊断新牛儿CAH的滤纸干血片17α-0HP切值为30nmol/L,但这还有待更大样木量和临床实践的检验。关键词：新生儿；先天性肾上腺皮质增生症；发病率；潍坊【中图分类号】R816.9【文献标识码】A【文章编号】1001-5213(2016)09-0007-01Abstract:objectivetoexploretheweifangareaofneonatalcongenitaladrenalcortexhyperplasia(CAH)incidenceandcutthevalueofscreeningindex.MethodsinSeptember2012toMarch2016inweifangjurisdictionallpossesstheskillsofmidwiferyservices---本文来源于网络，仅供参考，勿照抄，如有侵权请联系删除---qualificationofmedicalandhealthinstitutionswasbornin289888casesoflivebirthsfornewbornscreeningobject,driedblooddetectionfilterin17alphahydroxyprogesterone(17alphaOHP)level,forsuspiciousonneonatalrecallreiteration,toreviewCAHwastakenintoaccounttodeterminewhetherthediagnosis.ComparedtonormalnewbornsandchildrenwithCAHgroupingdifferentgestationalage,weight,17alphaOHPlevelsofdriedblood.Theresultsofthisstudy,atotalof289888casesofneonatalscreening,4443casesofneonatalsuspectedCAH,recallof3488casesconfirmedin19cases,including15casesweremale,female4cases,allgirlshavegenitalmalformation;17forthelossofsalt,2casesofisolatedmasculine.CAHgroup,onthebasisofgestationalage32weeksorless,33and34,35and36weeks,37,38weeks,weight1500g,1500orless-2500-g,2500gorhigherorder,drybloodpieceoffilterpaper17alphaOHPlevelsareinturnreduce(t=3.95~3.95,P<0.05or0.05).CAHeverygestationalageandweightgroupwithdriedbloodpieceoffilterpaper17alphaOHPlevelsweresignificantlyhigherthannormalgroupofneonatallevel(t=9.67~9.67,P<0.01).Inallnewbornsforstatisticalsamplesizetested,drybloodpieceoffilterpaper17alphaOHPlevelsaccordwithnormaldistribution,95%confideneeinterval,measuringthedrybloodpieceoffilterpaperwith17alphaOHPlevelsinthediagnosisofCAHcutintothevalueof30nmol/L.ConclusionincidenceofCAHweifangareaofabout1,15257,inwhichlowgestationalage,lowbirthweightnewbornsufferingfromthehigherpercentageofCAH,theregion'sdiagnosisofneonatalCAHdrybloodpieceoffilterpaper17alphaOHPcuttingvalueof30nmol/L,butitremainstobealargersamplesizeandclinicalpract:iceofinspection.Keywords:thenewborn;Congenitaladrenalcortexhyperplasia;Incideneeofadis...
