上学期唐氏综合征苯丙酮尿症先天性甲状腺功能减低症教案

右江民族医学院教案2011至2012学年上学期课程名称：儿科学任课教师：潘红飞职称：教授授课专业及层次：08临本7-10班、全科、心理合班授课类型：理论课授课日期：20XX年10月18、21日教研室正、副主任或课程负责人审阅意见：签名：年月日二、教学目的：Understandthecytogeneticsandthegeneticcounselingoftrisomy21syndromeMastertheclinicalmanifestations，diagnosisandpreventionoftrisomy21syndrome（三）了解Understandthedifferentialdiagnosisoftrisomy21syndrome（四）了解苯丙酮尿症病因和发病机制UnderstandtheetiologyandthemechanismofPKU（五）掌握苯丙酮尿症临床表现和诊断MastertheclinicalmanifestationsandthediagnosisofPKU（六）了解苯丙酮尿症的鉴别诊断UnderstandthedifferentialdiagnosisofPKUTounderstandtheetiologyofcongenitalhypothyroidismTomastertheclinicalmanifestationsandthediagnosisofcongenitalhypothyroidismTomasterthetreatmentofcongenitalhypothyroidismTheclinicalmanifestationsandthediagnosisoftrisomy21syndrome苯丙酮尿症临床表现和诊断TheclinicalmanifestationsandthediagnosisofPKUTheclinicalmanifestationsandthediagnosisofcongenitalhypothyroidism，especiallytheearlydiagnosis.Thetreatmentofcongenitalhypothyroidism和Thedifferentialdiagnosisoftrisomy21syndromeandcongenitalhypothyroidismMulti-mediamixsystemr.六、自学内容：none七、相关学科知识：生理学、生物化学physiology、biochemistry八、教学法：启发式教学法heuristicslecyure九、讲授内容纲要、要求及时间分配唐氏综合症（30分钟）病例报告Casereport----显示病例照片------1分钟遗传性疾病概述-----导入唐氏综合征------5分钟（一）遗传性疾病概述Summaryofgeneticdiseases------5分钟

TheMolecularBasisofGeneticDisorders;

TheHumanGenomeProject;TheincidenceofgeneticdiseasesIntroduction

oftrisomy21syndromeThedefinitionandtheincidenceoftrisomy21syndrome（二）唐氏综合症的遗传学基础Thebasisofgenetics

oftrisomy21syndrome------图示讲解------1分钟Standardtrisomy21TranslocationMosaicism（三）临床表现------显示照片、图示讲解------9分钟TheclinicalmanifestationsPatientwithcharacteristicfacesandcharacteristicdermatoglyphicsPatientwithslowingofmentalresponsivenessPatientwithretardationofgrowthanddevelopmentPatientwithcongenitaldeformity（四）辅助检查------图示讲解------3分钟1.染色体分析Chromosomeanalysis（1）.标准型占95%；核型为47，XX，+21或47，XY，+21（2）.易位型占2.5～5%；核型为46，XX（或46，XY），-14+t（14q21q）(3）.嵌和型2.分子细胞遗传学实验Molecularcytogeneticstests（五）诊断与鉴别诊断Diagnosisanddifferentialdiagnosis------2分钟1.染色体核型检查2.鉴别诊断：（六）治疗与预防TreatmentandPrevention------3分钟geneticcounseling------小结（复习本次课的主要内容）（1分钟）：----习题方式（幻灯片）苯丙酮尿症（22分钟）病例报告Casereport------1分钟（一）概况-----2分钟Introduction

ThedefinitionandtheincidenceofPKU（二）病因及发病机制-----图示讲解------4分钟1.病因与发病机制Theetiologyandthemechanism

2.病理（三）临床表现Clinicalmanifestation-----显示病例照片、图示讲解------6分钟NervoussystemMentalretardationisthemostcharacteristicofPKUAppearance:Theurineandsweatofthesepatientswith“mouse-like”odor.Theurineandsweatofthesepatientswith“mouse-like”odor.（四）辅助检查与诊断Auxiliaryexaminationanddiagnosis-----显示照片、图示讲解------4分钟Theneonatalscreeningroutine-CuthrietestofPKU.ThephenylalanineleveliselevatedinpatientwithPKU.（五）治疗Treatment------3分钟Oncethediagnosisismade,earlyrestrictionofphenylalanineinthedietisnecessary.小结（复习本次课的主要内容）（…1分钟）：先天性甲状腺功能减低症Congenitalhypothyroidism（28分钟）病例报告Presentcasefirst-----导入题目---显示病例照片（一）概况---2分钟TheoutlineofendocrinediseaseThedefinitionandtheincidenceofcongenitalhypothyroidism（二）病因和发病机制Theetiologyandthemechanism---4分钟①

Developmentaldefects:thyroidagenesisorfailureofmigration②

Dyshormonogenesis:inborndefectofthyroidhormonesynthesis③

Transientcongenitalhypothyroidism④

congenitalpituitarylesions(rare)⑤

Maternaliodidedeficiency（三）临床表现Theclinicalmanifestations---显示病例照片，举例讲解---10分钟散发性甲低----Infantsmayappearclinicallynormalatbirth.Theclassicalclinicalfeaturesinclude:prolongedneonataljaundice;feedingproblems;constipation;coarseface,largetongue,umbilicalhernia.At3-6months,theclinicalpictureisfullydeveloped:

retardationofdevelopmentofthebrain(slowingofmentalresponsiveness);thespecialfacefeaturesuchasthepuffyface,dullexpression,andhirsuteforehead,alargetongue;thespecialstature.地方性甲低25%有甲状腺肿大（1）神经性综合征：表现为共济失调、痉挛性瘫痪、耳聋和智能低下为特征，但身材正常、甲状腺功能正常或轻度减低。（2）粘液水肿性综合征：以显著的生长发育和性发育落后、粘液水肿、智能低下为特征，血T4↓TSH↑。（四）实验室检查Laboratoryexamination---4分钟①

Screeningforcongenitalhypothyroidisminnewborn应用表格----新进展简介②

HighserumT4level;lowTSHlevel③

Boneageshowsosseousunderdeveloped④

Detectionofthyroid131Iuptakerate.（五）诊断Diagnosis---2分钟Ascongenitalhypothyroidismiscommonandtreatable,neonatalscreeningisundertaken.Thelaboratorytestshowsraisedlevelofthyroidstimulatinghormone(althoughsomepatientsshowraisedlevelsofbothTSHandT4).Neonatalscreeningisimportant.1.本病新生儿期不易确诊，故新生儿的筛查显得十分重要2.在出现典型的临床症状时往往已造成不同程度的智能障碍，故早期诊断十分重要3．实验室检查是本病确诊的依据，光凭临床不易诊断（六）鉴别诊断Differentialdiagnosis---显示病例照片---2分钟①

Rickets②

Downsyndrome③

Achondroplasia（七）治疗和预防TreatmentandPrevention—举例讲解---3分钟1.不论器质病因何在，一旦确立立即治疗2.对先天性甲状腺发育异常或代谢异常起病者需终身治疗3.对下丘脑-垂体性甲低者，甲状腺治疗从小剂量开始，同时给生理需要量皮质激素，防止突发性肾上腺皮质功能衰竭4.疑有暂时性甲低者，一般需正规治疗两年后，再停药1个月，复查甲状腺功能，若甲状腺功能正常，则可停药。甲状腺素是治疗先天性甲低的最有效药物。小结（复习本次课的主要内容）（…1分钟）：八、参考书目：（一）胡亚美，江载芳.