中国6例Andersen-Tawil综合征回顾性临床分析

发布时间：2018-06-15 22:40

本文选题：Andersen-Tawil综合征 + KCNJ2基因　；参考：《西安医学院》2017年硕士论文

【摘要】：目的:分析Andersen-Tawil综合征(ATS)患者的临床表现、电生理及基因检测结果,以提高对ATS的认识。方法:收集2007-01-01—2017-01-01西安高新医院神经内科诊断的2例ATS及近10年来国内外文献报道的中国ATS病例资料4例。对此6例中国ATS患者的临床表现、心电图、肌电图及基因学等进行详细的分析与总结。结果:1、ATS的临床表现:(1)周期性麻痹:有周期性麻痹发作的6例(100%),其中低钾型周期性麻痹有4例(66.67%),正常钾型周期性麻痹有2例(33.33%),未见高钾型周期性麻痹;(2)发育畸形:具有典型发育畸形的表现者5例(83.33%),其中具有眼距增宽表现的有3例(50.00%),具有低耳廓表现的2例(33.33%),具有小下颌表现的1例(16.67%),具有发育迟缓、身材矮小表现的1例(16.67%),具有指弯曲畸形的表现的1例(16.67%),具有1项典型发育畸形表现者有2例(33.33%),具有2项发育畸形表现的有3例(50.00%)。2、心电图:有VH的5例(83.33%),其中有Q-T延长者3例(50.00%),有宽大U波的3例(50.00%),有VT的4例(66.67%),BVT的3例(50.00%)。3、肌电图:(1)有5例进行了肌电图检查的,其中表现为CMAP的波幅减低的有4例(80%);(2)有2例进行了长程运动诱发试验,提示在60分钟内的CMAP波幅递减超过40%。4、基因学:有5例进行了基因学检查,发现KCNJ2基因杂合突变的5例(100%),其杂合突变类型为:c.431GC(p.G144A)、c.899 GT(p.G300V)、c.11062CT(p.P186L)、c.919AG(p.M307V)。结论:我国ATS患者以周期性麻痹、VH及发育畸形为主要临床表现。(1)、有其基因特异型心电图改变:主要表现有VT、宽大的u波、明显的Q-T间期延长和具有特征的BVT。可引起心源性晕厥及心跳骤停。(2)、具有原发性周期性麻痹肌电图特征的改变:运动神经传导检测可见CMAP波幅减低,长程的运动诱发试验可见60min内CMAP波幅递减超过40%,且波幅递减多发生在第一个20分钟内。(3)、KCNJ2基因检测有利于确诊,其基因突变类型为: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.
【学位授予单位】：西安医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R596

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