本文選題：Andersen-Tawil綜合征 + KCNJ2基因��； 參考：《西安醫(yī)學(xué)院》2017年碩士論文

【摘要】：目的:分析Andersen-Tawil綜合征(ATS)患者的臨床表現(xiàn)、電生理及基因檢測結(jié)果,以提高對ATS的認(rèn)識。方法:收集2007-01-01—2017-01-01西安高新醫(yī)院神經(jīng)內(nèi)科診斷的2例ATS及近10年來國內(nèi)外文獻(xiàn)報(bào)道的中國ATS病例資料4例。對此6例中國ATS患者的臨床表現(xiàn)、心電圖、肌電圖及基因?qū)W等進(jìn)行詳細(xì)的分析與總結(jié)。結(jié)果:1、ATS的臨床表現(xiàn):(1)周期性麻痹:有周期性麻痹發(fā)作的6例(100%),其中低鉀型周期性麻痹有4例(66.67%),正常鉀型周期性麻痹有2例(33.33%),未見高鉀型周期性麻痹;(2)發(fā)育畸形:具有典型發(fā)育畸形的表現(xiàn)者5例(83.33%),其中具有眼距增寬表現(xiàn)的有3例(50.00%),具有低耳廓表現(xiàn)的2例(33.33%),具有小下頜表現(xiàn)的1例(16.67%),具有發(fā)育遲緩、身材矮小表現(xiàn)的1例(16.67%),具有指彎曲畸形的表現(xiàn)的1例(16.67%),具有1項(xiàng)典型發(fā)育畸形表現(xiàn)者有2例(33.33%),具有2項(xiàng)發(fā)育畸形表現(xiàn)的有3例(50.00%)。2、心電圖:有VH的5例(83.33%),其中有Q-T延長者3例(50.00%),有寬大U波的3例(50.00%),有VT的4例(66.67%),BVT的3例(50.00%)。3、肌電圖:(1)有5例進(jìn)行了肌電圖檢查的,其中表現(xiàn)為CMAP的波幅減低的有4例(80%);(2)有2例進(jìn)行了長程運(yùn)動誘發(fā)試驗(yàn),提示在60分鐘內(nèi)的CMAP波幅遞減超過40%。4、基因?qū)W:有5例進(jìn)行了基因?qū)W檢查,發(fā)現(xiàn)KCNJ2基因雜合突變的5例(100%),其雜合突變類型為:c.431GC(p.G144A)、c.899 GT(p.G300V)、c.11062CT(p.P186L)、c.919AG(p.M307V)。結(jié)論:我國ATS患者以周期性麻痹、VH及發(fā)育畸形為主要臨床表現(xiàn)。(1)、有其基因特異型心電圖改變:主要表現(xiàn)有VT、寬大的u波、明顯的Q-T間期延長和具有特征的BVT�？梢鹦脑葱詴炟始靶奶E停。(2)、具有原發(fā)性周期性麻痹肌電圖特征的改變:運(yùn)動神經(jīng)傳導(dǎo)檢測可見CMAP波幅減低,長程的運(yùn)動誘發(fā)試驗(yàn)可見60min內(nèi)CMAP波幅遞減超過40%,且波幅遞減多發(fā)生在第一個20分鐘內(nèi)。(3)、KCNJ2基因檢測有利于確診,其基因突變類型為:c.431GC(p.G144A)、c.899 GT(p.G300V)、c.11062CT(p.P186L)、c.919AG(p.M307V)。
[Abstract]:Objective: to analyze the clinical manifestation, electrophysiology and gene detection results of Andersen-Tawil syndrome (ATS) patients in order to improve the understanding of ATS. Methods: two patients with ATS diagnosed by Department of Neurology, Xi'an High Tech Hospital in January, January, 2017-01-January, 2007, and four cases of Chinese ATS cases reported in domestic and foreign literatures in recent 10 years were collected. The clinical manifestations, electrocardiogram, electromyogram and genetics of 6 patients with ATS in China were analyzed and summarized in detail. Results there were 6 cases with periodic paralysis, 4 cases with hypokalemic periodic paralysis and 2 cases with normal periodic paralysis with 33. 3333% of them. No hyperkalemic periodic paralysis was found. There were 5 cases with typical developmental deformities (83.33%), among which 3 cases had enlarged eye distance, 2 cases had low auricle, 2 cases had low auricle, 1 case had small mandible, 1 case had the sign of small mandible, and they had developmental retardation, and there were 3 cases with enlarged eye distance, 2 cases with low auricle appearance, 1 case with small mandible, 1 case with small mandible, and 1 case with small mandible. One case with short stature presented with 16.67m, one case with finger bending malformation, one case with one typical developmental malformation, 2 cases with one typical developmental malformation, 3 cases with 2 developmental deformities, 3 cases with 50.00.2.ECG: 5 cases with VH, 83.3333 with Q-T. In 3 cases with prolongation, 50.002 with U wave, 50.00000 with U wave, 66.67 with VT with BVT, 50.000 with BVT, 5 with EMG: 1) were examined by electromyography (EMG), 5 cases with BVT, 5 cases with VT, 5 cases with BVT, 5 cases with BVT, and 5 cases with VT. Among them, there were 4 cases with decreased amplitude of CMAP. 2 cases were induced by long range exercise, indicating that the amplitude of CMAP decreased more than 40% within 60 minutes. Genetics: 5 cases underwent genetic examination. Five cases of KCNJ2 heterozygosity were found. The type of heterozygosity of KCNJ2 gene was as follows: c.431GCU p.G144Agna c.899 GTp.G300VN / c. 11062CTp.P186LC919AGP. M307V. Conclusion: the main clinical manifestations of ATS patients in China are periodic paralysis of VH and developmental malformation. The main clinical manifestations of ATS patients are abnormal electrocardiogram: VT, broad u wave, obvious prolongation of Q-T interval and characteristic BVT. It can cause cardiogenic syncope and cardiac arrest. It has the characteristic of electromyography with primary periodic paralysis: the amplitude of CMAP is decreased in motor nerve conduction test. The long-term exercise induced test showed that the amplitude of CMAP decreased more than 40 in 60min, and the decrease of amplitude occurred in the first 20 minutes. The detection of KCNJ2 gene was helpful to the diagnosis of the disease. The mutation type of CMAP in 60min was: 1 / c. 431GCU p. G144A + c. 899 GTP. G300Vc. 11062CTp.P186LT. 9AGN p. M307VN.
【學(xué)位授予單位】：西安醫(yī)學(xué)院
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R596

【參考文獻(xiàn)】

相關(guān)期刊論文 前10條

1 白靜;李毅;劉鳳君;梁為;石昕;陳靜;;Andersen-Tawil綜合征的臨床特點(diǎn)(附1例報(bào)告)[J];臨床神經(jīng)病學(xué)雜志;2016年02期

2 劉曉黎;黃嘯君;沈雋逸;王田;湯薈冬;曹立;;原發(fā)性低鉀型周期性麻痹致病基因篩查及其臨床特征分析[J];上海交通大學(xué)學(xué)報(bào)(醫(yī)學(xué)版);2016年01期

3 劉曉黎;湯薈冬;曹立;;骨骼肌離子通道病的研究進(jìn)展[J];上海交通大學(xué)學(xué)報(bào)(醫(yī)學(xué)版);2015年07期

4 胡大一;郭繼鴻;劉文玲;浦介麟;李翠蘭;洪葵;劉興鵬;郭成軍;吳林;張萍;汪道武;;遺傳性原發(fā)性心律失常綜合征診斷與治療中國專家共識[J];中華心血管病雜志;2015年01期

5 夏馭龍;周菁;;U波的基本特性與形成機(jī)制及臨床應(yīng)用[J];中國心臟起搏與心電生理雜志;2014年04期

6 李翠蘭;;心電圖與長QT綜合征的診斷與分型[J];臨床心電學(xué)雜志;2014年01期

7 岳炫燁;陳浩;張尊勝;孫亞云;崔桂云;沈霞;;Andersen-Tawil綜合征一例[J];中華神經(jīng)科雜志;2012年11期

8 李翠蘭;胡大一;;長QT綜合征的基因檢測及診療進(jìn)展[J];江西醫(yī)藥;2012年05期

9 丁昌紅;袁越;黃昱;王勤;;兒童Andersen-Tawil綜合征1例并文獻(xiàn)復(fù)習(xí)[J];中國循證兒科雜志;2011年04期

10 陳韜;梁春;吳宗貴;;Andersen-Tawil綜合征的研究[J];國際心血管病雜志;2010年01期

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