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1、#216#中国新生儿科杂志2010年第25卷第4期#论著#新生儿先天性肾上腺皮质增生症20例临床分析丁翊君林影王亚娟邵芳=摘要>目的探讨新生儿期先天性肾上腺皮质增生症(CAH)的临床特点、诊断及治疗。方法选择2002年2月至2009年6月本院新生儿病房收治的CAH患儿,总结其临床表现、血钾、血钠、血17羟孕酮、睾酮、雌二醇及肾上腺B超等特点,进行诊断及分型,分析其激素治疗和预后情况。结果共收治20例CAH,21羟化酶缺乏失盐型11例,单纯男性化型9例。10例出现肾上腺危象。1例确诊后放弃治疗,余19例好转出院。随访10例,其中3例感染后病情加重,再次住院治疗;3例继续应用小剂量
2、激素维持,感染后无明确病情加重;2例已停止应用激素,除皮肤黑外,其余生长发育均正常,感染后亦无病情加重;2例死亡。失访10例。结论新生儿期CAH以21羟化酶缺乏最为常见,易发生肾上腺危象,激素治疗有效,部分患儿是否不需终身服用激素值得探讨。=关键词>先天性肾上腺皮质增生症;类固醇21羟化酶;婴儿,新生Clinicalanalysesof20newborncaseswithcongenitaladrenalhyperplasiaDINGYi-jun,LINYing,WANGYa-juan,SHAOFang1NeonatalCenter,BeijingChildren'sHospi
3、talAffiliatedtoCapitalUniversityofMedicalScience,Beijing100045,ChinaCorrespondingauthor:DINGYi-jun,Email:ding_876@msn1com=Abstract>ObjectiveToinvestigateclinicalfeatures,diagnosisandtreatmentofneonatalcongenitaladrenalhyperplasia(CAH)1MethodsAllcasesofneonatalCAHadmittedtotheneonatalcenterin
4、BeijingChildrenpsHospitalfromFebruary2002toJune2009wereincludedforthisstudy1Theclinicalmanifestations,serumtestresultsandadrenalultrasoundofeachcasearesummarizedtodiagnoseandsub-typetoevaluatethehormonetreatmentandprognosis1ResultsAmongthe20casesofCAH,11casesweresub-typedas21-hydroxylasedefi
5、ciencysal-tlosingform,and9casesassimplevirilizingform110casesofCAHhavebeenpresentedasadrenalcrises1Aftertreatmen,t19casesshowedclinicalimprovementandweredischarged;onecaserefusedtreatmentafterdiagnosis1Therewere10casesunderfollow-up,and10caseslostcontactwiththecenter1Withthefollow-upcases,th
6、reecaseshavebeenexacerbatedbyinfectionandre-hospitalized;threecaseshavemaintainedbyasmallamountofhormonetreatmentwithoutexacerbationsaftertheinfection1Twocasesceasedhormonetreatmentandaregrowinganddevelopingnormallyinadditiontohavingdarkskin1Theremaining2casesdeceased1ConclusionThemostcommon
7、formofCAHinneonatalperiodiscausedby21-hydroxylasedeficiencythatispronetoadrenalcrisis1Corticosteroidtherapyisaneffectivetreatmentbutwhethersomepatientsmustcontinuelife-longhormonetreatmentisworthfurtherresearch1=Keywords>Congenitaladrenalhyperplasi
