先天性甲状腺功能减退（精选）.ppt

CONGENITAL HYPOTHYROIDISM
先天性甲状腺功能减退
目的 purpose
熟悉先天性甲低的病因
To be familial with etiology
掌握先天性甲低的临床表现与诊断
To master symptoms and signs
掌握先天性甲低的治疗
To master treatment
前言 introduction
名称——简称甲低已往也称“呆小病”或“克汀病”,现已屏弃(name-----previously called cretinism,now it is discarded.)
定义——甲低是由于甲状腺激素的合成及分泌不足或靶细胞受体缺陷,引起的代谢水平低下、体格和智能发育障碍( Concept----low metabolism level and physical and mental development disturbance because of deficiency of thyroid hormone of synthesis and secretion and target cell receptor )
前言 introduction
流行情况——绝大多数是先天性的,地方性者多见于甲状腺肿流行的山区(Prevalence-----most congenital ,but endemic,in mountain area epidemic with goiter.)
国内发病率——1/ 7000(Incidence-------1/7000)
病因 etiology
散发性 sporadic
先天性甲状腺发育不全或不发育(congenital hypoplasia or aplasia of thyroid)
甲状腺素合成途径中酶缺乏——常染色体隐性遗传病(enzymatic defection ----- autosomal recessive disease )
病因 etiology
促甲状腺激素缺陷(defection of TSH)
垂体分泌促甲状腺激素TSH障碍(disorder of TSH secretion)
下丘脑分泌的促甲状腺素释放激素TRH障碍(disorder of TRH secretion)
病因 etiology
甲状腺或靶器官反应性低下(Hypoactivity of thyroid or an)
新生儿暂时性甲状腺功能减低症(neonatal transient hypothyroidism)
(由于母体内的促甲状腺受体阻断抗体通过胎盘进入胎儿所致,此抗体通常3个月内消失)
病因
地方性-碘缺乏
(Endemic-iodide deficiency)
目前少见。碘缺乏的最大危害“一代粗(甲状腺肿),二代傻,三代断根芽”,从这首曾经流传在重病区的民谣中可以窥见碘缺乏之危害。
母婴期的碘缺乏是造成儿童甲低的常见原因。
(Now rare,iodide deficiency is the mon cause.)
临床表现 Symptoms and signs
新生儿期症状
( neonatal period symptoms and signs)
生理性黄疸延迟(Prolonged jaundice)
腹胀、便秘,易误诊为巨结肠(Abdominal distension, constipation ,easily misdiagnosised megacolon)
代谢率低(Low metabolic rate)
表现为睡眠多(sleepy)
反应迟钝,哭声低、(Sluggishness ,low crying)
声嘶、喂养困难、(Hoarse voice ,feeding problems)
体温低、末稍循环差(Hypothermia ,mottled skin,etc.)
临床表现symptoms and signs
典型症状(半年后)( Characteristic symptoms)
特殊面容和体态
(Characteristic facies and posture )
面容:眼距宽、鼻梁宽平;舌大而厚,常伸出口外;面部粘液水肿,眼睑浮肿;头大颈短(Facies:spaced eyes, flat nasal bridge,large tongue and even protruding ,myxedema, eyelid edema,large skull and short neck.)
体态:身材矮小,四肢短小,上部量/下部量>
(Posture:short stature,short extremities