CAJ | 학술논문

目的探讨双胞胎晕厥儿童的家族遗传特征.方法对4对以头晕、头痛、胸闷、胸痛、先兆晕厥及晕厥等症状为主诉的双胞胎儿童,经详细的病史询问、体格检查和常规心电图、超声心动图、动态心电图、脑电图、头部CT/MRI等检查排除心脑血管及肺部疾病,病因仍不明确者进行直立倾斜试验(HUTT)检查,详细记录其晕厥家族史,分析其年龄、性别、临床表现、家族史及HUTT血流动力学改变等资料,并进行电话随访.结果 4对双胞胎儿童起病年龄7～12岁,小于儿童晕厥发病中位数年龄15岁;起病诱因以站立为主(4/5例),晕厥阳性家族史2对;HUTT反应类型以血管抑制型为主(4/5例);HUTT结果及反应类型在同一对双胞胎中表现不完全一致:第1对中1例为血管抑制型,另1例为体位性心动过速综合征;第2对中1例为血管抑制型,另1例为阴性;第3对均为血管抑制型;第4对均为阴性.4对双胞胎HUTT结果及反应类型不完全一致,提示环境、心理等多因素参与晕厥发作.结论儿童晕厥的家族遗传因素可能在小年龄组起更重要的作用;环境、心理等多因素诱导晕厥发作.双胞胎HUTT结果存在多样性,同一对双胞胎的HUTT结果及反应类型可以不一致.
목적 탐토쌍포태훈궐인동적가족유전특정.방법 대4대이두훈、두통、흉민、흉통、선조훈궐급훈궐등증상위주소적쌍포태인동,경상세적병사순문、체격검사화상규심전도、초성심동도、동태심전도、뇌전도、두부CT/MRI등검사배제심뇌혈관급폐부질병,병인잉불명학자진행직립경사시험(HUTT)검사,상세기록기훈궐가족사,분석기년령、성별、림상표현、가족사급HUTT혈류동역학개변등자료,병진행전화수방.결과 4대쌍포태인동기병년령7～12세,소우인동훈궐발병중위수년령15세;기병유인이참립위주(4/5례),훈궐양성가족사2대;HUTT반응류형이혈관억제형위주(4/5례);HUTT결과급반응류형재동일대쌍포태중표현불완전일치:제1대중1례위혈관억제형,령1례위체위성심동과속종합정;제2대중1례위혈관억제형,령1례위음성;제3대균위혈관억제형;제4대균위음성.4대쌍포태HUTT결과급반응류형불완전일치,제시배경、심리등다인소삼여훈궐발작.결론 인동훈궐적가족유전인소가능재소년령조기경중요적작용;배경、심리등다인소유도훈궐발작.쌍포태HUTT결과존재다양성,동일대쌍포태적HUTT결과급반응류형가이불일치.
Objective To explore the familial genetic characteristics of twins syncope in children.Methods Four pairs of twins with unexplained dizziness,headache,chest tightness,chest pain,pre-syncope and syncope were received head-up tilt test (HUTT) and family history of syncope were inquired.The age,gender,clinical manifestations were analyzed and the HUTT hemodynamic response were performed,and interviewed via telephone.Results The onset age of 4 pairs of twins ranged from 7 to 12 years old,less than 15 years,the median age of the first syncope episodes.Cause of syncope was primarily standing(4/5 cases),2 pairs had syncope positive family history.HUTT hemodynamic response type was mainly vasodepressor syncope (4/5 cases).HUTT result and hemodynamic response type were not completely consistent in the same twins.One case of the first twins was vasodepressor syncope and postural orthostatic tachycardia syndrome.One case of the second twins was vasodepressor syncope,while the other was negative.The third twins were vasodepressor syncope.The fourth twins were negative.HUTT results of the 4 twins were diverse,indicating that environment,psychological factors may get involved in syncope episodes.Conclusions The familial genetic factors of the children with syncope may play an important role in the young age group.Environment and psychological factors may be induce syncope attack.HUTT results of twins are diverse.HUTT result and hemodynamic response type can be inconsistent in the same twin.