中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
1期
31-35
,共5页
遗传性压力易感性周围神经病%神经电生理%周围髓鞘磷脂蛋白22%基因检测
遺傳性壓力易感性週圍神經病%神經電生理%週圍髓鞘燐脂蛋白22%基因檢測
유전성압력역감성주위신경병%신경전생리%주위수초린지단백22%기인검측
Hereditary neuropathy with liability to pressure palsies%Electrophysiology%Peripheral myelin protein 22%Gene analysis
目的 探讨遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)的临床、神经电生理及基因特点,为该病的诊断提供依据.方法 对1个家系的4例患者进行临床特点总结,行电生理检查和基因检测.结果 4例患者均表现为反复发作的周围神经受到轻微牵拉或压迫后出现运动感觉障碍,电生理检查示广泛性多发性的周围神经潜伏期延长,传导速度减慢,易卡压部位出现传导阻滞.基因检测示PMP22基因缺失突变.结论 HNPP多以神经易卡压部位发病,表现为受累神经支配区的运动感觉异常,神经电生理表现为广泛神经脱髓鞘损伤,基因检测能确诊.
目的 探討遺傳性壓力易感性週圍神經病(hereditary neuropathy with liability to pressure palsies,HNPP)的臨床、神經電生理及基因特點,為該病的診斷提供依據.方法 對1箇傢繫的4例患者進行臨床特點總結,行電生理檢查和基因檢測.結果 4例患者均錶現為反複髮作的週圍神經受到輕微牽拉或壓迫後齣現運動感覺障礙,電生理檢查示廣汎性多髮性的週圍神經潛伏期延長,傳導速度減慢,易卡壓部位齣現傳導阻滯.基因檢測示PMP22基因缺失突變.結論 HNPP多以神經易卡壓部位髮病,錶現為受纍神經支配區的運動感覺異常,神經電生理錶現為廣汎神經脫髓鞘損傷,基因檢測能確診.
목적 탐토유전성압력역감성주위신경병(hereditary neuropathy with liability to pressure palsies,HNPP)적림상、신경전생리급기인특점,위해병적진단제공의거.방법 대1개가계적4례환자진행림상특점총결,행전생리검사화기인검측.결과 4례환자균표현위반복발작적주위신경수도경미견랍혹압박후출현운동감각장애,전생리검사시엄범성다발성적주위신경잠복기연장,전도속도감만,역잡압부위출현전도조체.기인검측시PMP22기인결실돌변.결론 HNPP다이신경역잡압부위발병,표현위수루신경지배구적운동감각이상,신경전생리표현위엄범신경탈수초손상,기인검측능학진.
Objective To delineate the clinical,electrophysiological and genetics features of a family where 4 members were affected with hereditary neuropathy with liability to pressure palsies (HNPP).Methods Clinical features of the 4 patients were summarized.Electrophysiological examination and genetic analysis were carried out.Results All of the patients showed recurrent motor and sensory disturbances after minor traction or constriction.Electrophysiology study revealed that the prolonged latency and reduced conduction velocity of peripheral nerve were general and with multiple sites of affection.The nerve locations liable to entrapment showed conduction block.A deletion mutation of peripheral myelin protein 22 (PMP22) gene was identified by genetic analysis.Conclusion HNPP usually affects areas where nerves are liable to entrapment,and presents with motor and sensory disturbances of the innervated areas.Electrophysiological study reveals general nervous demyelination.Genetic analysis can clarify the diagnosis of HNPP.
