CAJ | 학술논문

目的探讨经线粒体呼吸链酶复合物活性测定确诊的非综合征型线粒体病患儿的临床特点.方法选择2010年3月至2011年4月在首都儿科研究所附属儿童医院神经内科就诊的疑似线粒体病、经呼吸酶链复合物Ⅰ～Ⅴ活性检测确诊为非综合征型线粒体病的7例患儿为研究对象.其中,男性患儿为6例,女性为1例(本研究遵循的程序符合本院人体试验委员会制定的伦理学标准,得到该委员会批准,并征得患儿监护人的知情同意).对其外周血白细胞呼吸链酶复合物Ⅰ～Ⅳ,ATP合成酶(复合物Ⅴ)活性进行测定,并对其临床资料进行回顾性分析.结果 ①感染后出现智力倒退为5例,合并惊厥发作为4例、瘫痪为6例;耳聋、共济失调各2例,合并垂体前叶功能低下/发作性低血糖为1例;肌力及肌张力减低为7例.头颅磁共振检查异常为6例,脑电图异常为5例,肌电图异常为3例.血乳酸轻度升高为3例,心肌酶谱异常为2例.②常规线粒体基因筛查均呈阴性.③线粒体呼吸链酶复合物缺陷:复合物Ⅱ缺陷为2例,复合物Ⅰ,Ⅳ缺陷各为1例,复合物Ⅰ+Ⅲ缺陷为2例,复合物Ⅱ+Ⅴ缺陷为1例.结论儿童线粒体呼吸链酶缺陷可缺乏特异性的神经系统症状,表现为多系统广泛受累,且常规线粒体基因筛查呈阴性,进行外周血线粒体呼吸链酶复合物活性测定,有助于确诊非综合征型线粒体病.
목적 탐토경선립체호흡련매복합물활성측정학진적비종합정형선립체병환인적림상특점.방법 선택2010년3월지2011년4월재수도인과연구소부속인동의원신경내과취진적의사선립체병、경호흡매련복합물Ⅰ～Ⅴ활성검측학진위비종합정형선립체병적7례환인위연구대상.기중,남성환인위6례,녀성위1례(본연구준순적정서부합본원인체시험위원회제정적윤리학표준,득도해위원회비준,병정득환인감호인적지정동의).대기외주혈백세포호흡련매복합물Ⅰ～Ⅳ,ATP합성매(복합물Ⅴ)활성진행측정,병대기림상자료진행회고성분석.결과 ①감염후출현지력도퇴위5례,합병량궐발작위4례、탄탄위6례;이롱、공제실조각2례,합병수체전협공능저하/발작성저혈당위1례;기력급기장력감저위7례.두로자공진검사이상위6례,뇌전도이상위5례,기전도이상위3례.혈유산경도승고위3례,심기매보이상위2례.②상규선립체기인사사균정음성.③선립체호흡련매복합물결함:복합물Ⅱ결함위2례,복합물Ⅰ,Ⅳ결함각위1례,복합물Ⅰ+Ⅲ결함위2례,복합물Ⅱ+Ⅴ결함위1례.결론 인동선립체호흡련매결함가결핍특이성적신경계통증상,표현위다계통엄범수루,차상규선립체기인사사정음성,진행외주혈선립체호흡련매복합물활성측정,유조우학진비종합정형선립체병.
Objective To investigate the clinical features of the non-syndromie mitochondrial disease in children which were identified by mitochondrial respiratory chain enzyme complex activity assay.Methods From March 2010 to April 2011,seven children who were diagnosed as non-syndromic mitochondrial disease were included into this study.The enzyme activity of respiratory chain enzyme complexes (Ⅰ-Ⅳ) and ATP synthase (complex Ⅴ ) in peripheral blood leukocytes of 7 children were determined. All the children whose routine screening of mitochondrial genes were negative. Children's clinical data were retrospectively analyzed.Results ①There were intelligence backwards after infection in 5 cases,combined seizures in 4 cases, paralysis in 6 cases; deafness, ataxia in 2 cases, combining anterior pituitary hypofunction/episodes of hypoglycemia in 1 case; myodynamia and hypomyotonia in 7 cases.The findings of brain MRI were abnormal in 6 cases,the findings of electroencephalogram (EEG) were abnormal in 5 cases and abnormal findings of electromyography (EMG) in 3 cases.Blood lactate increased slightly in 3 cases,the level of myocardial enzyme were abnormal in 2 cases.②Conventional mitochondrial genes screening was negative.③4 childen had isolated complex defects:complex Ⅱ deficiency (2 cases),complex deficiency of Ⅰ or Ⅳ (1 case,respectively); 3 cases were found to have combined deficiencies:2 cases had combined deficiencies of complex Ⅰ and Ⅲ,1 case had combined deficiencies of complex Ⅱ and Ⅴ.Conclusions Mitochondrial respiratory chain enzyme deficiency in children may present non-specific neurological symptoms,the clinical features were extensive involvement of multi-system,and regular screening of mitochondrial gene was negative,the mitochondrial respiratory chain enzyme activity assay of peripheral leukocyte may help to identify the non-syndromic mitochondrial disease.