CAJ | 학술논문

目的通过报道1个中国汉族热性惊厥伴发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD)家系,探讨其临床特点,并明确该家系是否存在PRRT2基因突变.方法收集该家系详细临床资料,对先证者(Ⅳ1)及4例伴有PKD临床症状的家系成员(Ⅲ1、Ⅲ4、Ⅳ2、Ⅳ3)进行详细的临床检查,其中Ⅳ2临床症状不典型,仅为疑似病例；同时应用PCR结合DNA直接测序的方法,检测Ⅳ1、Ⅲ1、Ⅲ4、Ⅳ2、Ⅳ3及该家系中其余4名健康成员(Ⅱ2、Ⅲ2、Ⅲ5、Ⅳ4)是否携带PRRT2基因突变.结果该家系PKD患者均自青少年起出现静止状态下突然运动诱发的短暂不自主运动,其中2例(Ⅲ1、Ⅲ4)伴有热性惊厥,Ⅳ1、Ⅲ1及Ⅲ4存在脑电图异常；PCR结合DNA直接测序发现该家系4例PKD患者(Ⅳ1、Ⅲ1、Ⅲ4、Ⅳ3)及1名家系健康成员(Ⅳ4)存在PRRT2基因c.649dupC突变.结论热性惊厥伴PKD家系中存在PRRT2基因突变,该疾病诊断主要依据家族遗传史、典型临床表现及基因检测；此类疾病可能存在症状前患者.
목적 통과보도1개중국한족열성량궐반발작성운동유발성운동장애(paroxysmal kinesigenic dyskinesia,PKD)가계,탐토기림상특점,병명학해가계시부존재PRRT2기인돌변.방법 수집해가계상세림상자료,대선증자(Ⅳ1)급4례반유PKD림상증상적가계성원(Ⅲ1、Ⅲ4、Ⅳ2、Ⅳ3)진행상세적림상검사,기중Ⅳ2림상증상불전형,부위의사병례；동시응용PCR결합DNA직접측서적방법,검측Ⅳ1、Ⅲ1、Ⅲ4、Ⅳ2、Ⅳ3급해가계중기여4명건강성원(Ⅱ2、Ⅲ2、Ⅲ5、Ⅳ4)시부휴대PRRT2기인돌변.결과 해가계PKD환자균자청소년기출현정지상태하돌연운동유발적단잠불자주운동,기중2례(Ⅲ1、Ⅲ4)반유열성량궐,Ⅳ1、Ⅲ1급Ⅲ4존재뇌전도이상；PCR결합DNA직접측서발현해가계4례PKD환자(Ⅳ1、Ⅲ1、Ⅲ4、Ⅳ3)급1명가계건강성원(Ⅳ4)존재PRRT2기인c.649dupC돌변.결론 열성량궐반PKD가계중존재PRRT2기인돌변,해질병진단주요의거가족유전사、전형림상표현급기인검측；차류질병가능존재증상전환자.
Objective To discuss clinical,electroencephalogram(EEG) and PRRT2 gene mutation by reporting a febrile seizure (FS) with paroxysmal kinesigenic dyskinesia (PKD) family.Methods Detailed clinical data of the family were collected.The proband (Ⅳ1) and another 4 patients (Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3)were studied through clinical examinations.Clinical symptoms of Ⅳ2 were not typical,who was diagnosed as a suspected case.Mutation analysis of PRRT2 gene was screened by polymerase chain reaction (PCR) and DNA direct sequencing in 5 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ2,Ⅳ3) and 4 unaffected family members (Ⅱ2,Ⅲ2,Ⅲ5,Ⅳ4).Results PKD patients had brief involuntary movements in the limbs or trunk induced by sudden voluntary movement when patients were in the stationary state since the teenagers.Two cases (Ⅲ,Ⅲ4) were accompanied by FS.Three cases(Ⅳ1,Ⅲ1 and Ⅲ4)had abnormal EEG records.The PRRT2 gene mutation (c.649dupC mutation) was identified in a healthy member (Ⅳ4) and 4 patients (Ⅳ1,Ⅲ1,Ⅲ4,Ⅳ3).Conclusions FS with PKD family has a PRRT2 gene mutation.The diagnosis is mainly based on family history,typical clinical manifestations and genetic test.This kind of disease may have pre-symptomatic patients.