先天性甲狀腺功能減退課件

CONGENITALHYPOTHYROIDISM先天性甲狀腺功能減退目的purpose

熟悉先天性甲低的病因Tobefamilialwithetiology掌握先天性甲低的臨床表現(xiàn)與診斷Tomastersymptomsandsigns掌握先天性甲低的治療Tomastertreatment

前言introduction

名稱——簡(jiǎn)稱甲低已往也稱“呆小病”或“克汀病”，現(xiàn)已屏棄（name-----previouslycalledcretinism,nowitisdiscarded.）定義——甲低是由于甲狀腺激素的合成及分泌不足或靶細(xì)胞受體缺陷，引起的代謝水平低下、體格和智能發(fā)育障礙（Concept----lowmetabolismlevelandphysicalandmentaldevelopmentdisturbancebecauseofdeficiencyofthyroidhormoneofsynthesisandsecretionandtargetcellreceptor）病因etiology

散發(fā)性sporadic先天性甲狀腺發(fā)育不全或不發(fā)育（congenitalhypoplasiaoraplasiaofthyroid）甲狀腺素合成途徑中酶缺乏——常染色體隱性遺傳病(enzymaticdefection-----autosomalrecessivedisease)

病因etiology促甲狀腺激素缺陷(defectionofTSH)垂體分泌促甲狀腺激素TSH障礙(disorderofTSHsecretion)下丘腦分泌的促甲狀腺素釋放激素TRH障礙(disorderofTRHsecretion)病因etiology

甲狀腺或靶器官反應(yīng)性低下(Hypoactivityofthyroidortargetorgan)新生兒暫時(shí)性甲狀腺功能減低癥(neonataltransienthypothyroidism)（由于母體內(nèi)的促甲狀腺受體阻斷抗體通過(guò)胎盤進(jìn)入胎兒所致，此抗體通常3個(gè)月內(nèi)消失）病因

地方性-碘缺乏(Endemic-iodidedeficiency)目前少見。碘缺乏的最大危害“一代粗（甲狀腺腫），二代傻，三代斷根芽”,從這首曾經(jīng)流傳在重病區(qū)的民謠中可以窺見碘缺乏之危害。母嬰期的碘缺乏是造成兒童甲低的常見原因。(Nowrare,iodidedeficiencyisthemostcommoncause.)臨床表現(xiàn)symptomsandsigns

典型癥狀（半年后）(Characteristicsymptoms)特殊面容和體態(tài)(Characteristicfaciesandposture)面容：眼距寬、鼻梁寬平；舌大而厚，常伸出口外；面部粘液水腫，眼瞼浮腫；頭大頸短(Facies:spacedeyes,flatnasalbridge,largetongueandevenprotruding,myxedema,eyelidedema,largeskullandshortneck.)體態(tài)：身材矮小，四肢短小，上部量/下部量>1.5(Posture:short

stature,shortextremities.)智力低下(Mentaldisability)

臨床表現(xiàn)symptomsandsigns

典型癥狀（半年后）(characteristicsymptoms)生理功能低下(Lowphysiologicalfunction)四少-少食、少哭、少動(dòng)、少汗(Pooreating,poorcrying,littlemotion,diminishedsweating.)五慢-呼吸慢、脈搏慢、反應(yīng)慢、生長(zhǎng)慢、腸動(dòng)慢(RR↓,P↓,reactivity↓,growthretardation,vermiculation↓.)六低-體溫低、血壓低、肌張力低、哭聲低、心音低、心電壓低(hypothermia,hypotension,poormuscletone,lowcry,lowcardiacsound,lowcardiacvoltage.)臨床表現(xiàn)symptomsandsigns

地方性甲狀腺功能減低癥(Endemichypothyroidism)25%有甲狀腺腫大(25percents,goiter.)神經(jīng)性綜合征：表現(xiàn)為共濟(jì)失調(diào)、痙攣性癱瘓、耳聾和智能低下為特征，但身材正常、甲狀腺功能正常或輕度減低。(NSsyndrome:dystaxia,spasticparalysis,deafnessandmentaldisability,butnormalstature,normalormilderdecreasedfunctionofthyroidgland.)粘液水腫性綜合征：以顯著的生長(zhǎng)發(fā)育和性發(fā)育落后、粘液水腫、智能低下為特征，血T4↓TSH↑。(Myxedemasyndrome:obvioussex,growthanddevelopmentretardation,myxedema,mentaldisability,T4↓TSH↑.)

實(shí)驗(yàn)室檢查

Laboratoryfindings血清T4↓、TSH明顯增高可確診TodiagnosisdependonT4↓,TSH↑實(shí)驗(yàn)室檢查

Laboratoryfindings骨齡測(cè)定(

Estimateboneage)骨齡：骨骼成熟度相當(dāng)于某一年齡骨化中心的標(biāo)準(zhǔn)圖譜時(shí)該年齡即為骨齡

(Boneage:Skeletalmaturityequaltoossificationcenterofstandardmap)診斷diagnosis

本病新生兒期不易確診，故新生兒的篩查顯得十分重要(Inneonatalperiod,todiagnosisisdifficulty,soneonatalscreeningisimportant..)在出現(xiàn)典型的臨床癥狀時(shí)往往已造成不同程度的智能障礙，故早期診斷十分重要(Beforetheappearanceofcharacteristicclinicalsymptoms,mentaldisturbancehasappeared.soearlierperioddiagnosisisimportant.)實(shí)驗(yàn)室檢查是本病確診的依據(jù)，光憑臨床不易確診(Todiagnosisdependsonlaboratoryexamination.Itisnoteasytodiagnosisdependsonclinicalfindings.)治療treatment

除新生兒暫時(shí)性甲低外，不論何種原因造成的甲低都需甲狀腺素（優(yōu)甲樂(lè)即L-甲狀腺素鈉50μg/片）終生治療，以維持正常生理功能(Exceptneonataltransienthypothyroidism,itisnecessarytotakethyroidhormoneallthelifetokeepthephysiologicalfunction.)出生后1至2月即開始