中国安德森-塔维尔综合征患者的临床特征及长时间运动试验
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.
作者信息
Song Jie, Luo Sushan, Cheng Xin, Yue Dongyue, Zhu Wenhua, Lin Jie, Huang Jun, Lu Jiahong, Zhao Chongbo, Qiao Kai
机构信息
Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Department of clinical electrophysiology, Institute of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Road, Shanghai, 200040, China.
出版信息
Muscle Nerve. 2016 Dec;54(6):1059-1063. doi: 10.1002/mus.25169. Epub 2016 Oct 11.
INTRODUCTION
Andersen-Tawil syndrome (ATS) is a rare multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and developmental dysmorphology. There are few reports concerning ATS in the Chinese population. We analyzed clinical features and evaluated the long exercise test as a tool for diagnosis of periodic paralysis in ATS.
METHODS
Direct sequencing of KCNJ2 was performed in 12 subjects from mainland China with suspected ATS. Clinical features, therapeutic responses, and long exercise tests (LET) were retrospectively analyzed.
RESULTS
Twelve patients were genetically confirmed to have ATS. A small mandible and clinodactyly were demonstrated in all patients. Premature ventricular contractions were the most prevalent form of cardiac arrhythmia. The LET revealed an early amplitude decrement.
CONCLUSIONS
Chinese ATS patients shared some common clinical features with reported subjects in other countries. An early amplitude decrement in LET may be useful for diagnosis of ATS. Muscle Nerve 54: 1059-1063, 2016.
引言
安徒生-陶威尔综合征（ATS）是一种罕见的多系统通道病，其特征为周期性瘫痪、室性心律失常和发育畸形。关于中国人群中ATS的报道较少。我们分析了临床特征，并评估了长时间运动试验作为ATS中周期性瘫痪诊断工具的作用。
方法
对12名来自中国大陆疑似患有ATS的受试者进行KCNJ2基因直接测序。对临床特征、治疗反应和长时间运动试验（LET）进行回顾性分析。
结果
12例患者经基因确诊患有ATS。所有患者均表现出小下颌和小指弯曲。室性早搏是最常见的心律失常形式。LET显示早期振幅下降。
结论
中国ATS患者与其他国家报道的受试者有一些共同的临床特征。LET早期振幅下降可能有助于ATS的诊断。《肌肉与神经》54: 1059 - 1063, 2016年。
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