经基因诊断确诊的遗传性压迫易感性神经病临床特点分析

目的 研究经基因诊断确诊的遗传性压迫易感性神经病（hereditary neuropathy with liability to pressure palsies，HNPP）患者的临床特点和电生理特征。方法 对来自4个家系的5例HNPP患者进行基因诊断，并总结患者的临床特点，同时分析其电生理特征，包括肌电图（EMG）、运动神经传导速度（MCV）和感觉神经传导速度（SCV）。结果 5例患者均存在周围髓鞘蛋白22（peripheralmyelinationprotein22，PMP22）基因缺失。HNPP临床主要表现为反复发作的肢体麻木、无力，神经传导存在广泛异常。结论电生理检查对HNPP的诊断很重要，基因检测发现PMP22基因缺失是诊断HNPP的金标准。

Analysis of the clinical characteristics of HNPP patients diagnosed by gene diagnosis

Objective To analyze the clinical and electrophysiological characteristics of HNPP patients diagnosed by gene diagnosis. Methods The clinical characteristics of 5 patients from 4 different HNPP families were summarized. The electrophysiological characteristics including EMG,motor conduction velocity (MCV) and sensory conduction velocity (SCV) were analyzed. Results Recurrent limb numbness and weakness were the main characteristics of HNPP. The nerve conduction velocities were slow. The PMP22 gene deletion was found in all the 5 HNPP patients. Conclusions Electrophysiological examination is an important method for the diagnosis of HNPP. The PMP22 gene deletion detected by gene diagnosis is the golden criterion for the diagnosis of HNPP.