中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2011年
11期
848-852
,共5页
马艳艳%吴桐菲%刘玉鹏%王峤%宋金青%肖江喜%姜玉武%杨艳玲
馬豔豔%吳桐菲%劉玉鵬%王嶠%宋金青%肖江喜%薑玉武%楊豔玲
마염염%오동비%류옥붕%왕교%송금청%초강희%강옥무%양염령
线粒体疾病%Leigh病
線粒體疾病%Leigh病
선립체질병%Leigh병
Mitochondrial disease%Leigh disease
目的 对5例线粒体呼吸链复合物Ⅲ缺陷患儿进行临床特点和生化分析.方法 对5例患儿(男3例,女2例)临床特点进行归纳总结,并抽取患儿静脉血,分取白细胞线粒体蛋白,采用分光光度测定法检测线粒体呼吸链复合物Ⅰ～Ⅴ活性.结果 (1)5例分别于1个月～15岁时来院就诊.其中3例临床表型符合Leigh综合征,主要表现为智力运动发育落后,运动倒退.l例表现为肝损害,胆汁淤积症.l例表现为进行性肌无力.(2)线粒体呼吸链复合物Ⅰ+Ⅲ活性为3.0～14.2 nmoL/(min·mg线粒体总蛋白),200名正常对照为84.4±28.5 nmol/( min·mg线粒体总蛋白),患儿酶活性降低至正常对照的10.4％～49.3％；复合物Ⅰ+Ⅲ与柠檬酸合酶活性比值为3.5％～22.9％,显著低于正常对照[(66.1±l4.7)％],复合物Ⅰ、Ⅱ、Ⅳ和Ⅴ活性正常,符合单纯线粒体呼吸链复合物Ⅲ缺陷诊断.结论 线粒体呼吸链复合物Ⅲ缺陷病临床表现复杂多样,累及多个系统；复合物Ⅰ+Ⅲ活性以及与柠檬酸合酶活性比值均低于正常对照,而所有患儿复合物Ⅰ、Ⅱ、Ⅳ和Ⅴ活性均未发现异常.
目的 對5例線粒體呼吸鏈複閤物Ⅲ缺陷患兒進行臨床特點和生化分析.方法 對5例患兒(男3例,女2例)臨床特點進行歸納總結,併抽取患兒靜脈血,分取白細胞線粒體蛋白,採用分光光度測定法檢測線粒體呼吸鏈複閤物Ⅰ～Ⅴ活性.結果 (1)5例分彆于1箇月～15歲時來院就診.其中3例臨床錶型符閤Leigh綜閤徵,主要錶現為智力運動髮育落後,運動倒退.l例錶現為肝損害,膽汁淤積癥.l例錶現為進行性肌無力.(2)線粒體呼吸鏈複閤物Ⅰ+Ⅲ活性為3.0～14.2 nmoL/(min·mg線粒體總蛋白),200名正常對照為84.4±28.5 nmol/( min·mg線粒體總蛋白),患兒酶活性降低至正常對照的10.4％～49.3％；複閤物Ⅰ+Ⅲ與檸檬痠閤酶活性比值為3.5％～22.9％,顯著低于正常對照[(66.1±l4.7)％],複閤物Ⅰ、Ⅱ、Ⅳ和Ⅴ活性正常,符閤單純線粒體呼吸鏈複閤物Ⅲ缺陷診斷.結論 線粒體呼吸鏈複閤物Ⅲ缺陷病臨床錶現複雜多樣,纍及多箇繫統；複閤物Ⅰ+Ⅲ活性以及與檸檬痠閤酶活性比值均低于正常對照,而所有患兒複閤物Ⅰ、Ⅱ、Ⅳ和Ⅴ活性均未髮現異常.
목적 대5례선립체호흡련복합물Ⅲ결함환인진행림상특점화생화분석.방법 대5례환인(남3례,녀2례)림상특점진행귀납총결,병추취환인정맥혈,분취백세포선립체단백,채용분광광도측정법검측선립체호흡련복합물Ⅰ～Ⅴ활성.결과 (1)5례분별우1개월～15세시래원취진.기중3례림상표형부합Leigh종합정,주요표현위지력운동발육락후,운동도퇴.l례표현위간손해,담즙어적증.l례표현위진행성기무력.(2)선립체호흡련복합물Ⅰ+Ⅲ활성위3.0～14.2 nmoL/(min·mg선립체총단백),200명정상대조위84.4±28.5 nmol/( min·mg선립체총단백),환인매활성강저지정상대조적10.4％～49.3％；복합물Ⅰ+Ⅲ여저몽산합매활성비치위3.5％～22.9％,현저저우정상대조[(66.1±l4.7)％],복합물Ⅰ、Ⅱ、Ⅳ화Ⅴ활성정상,부합단순선립체호흡련복합물Ⅲ결함진단.결론 선립체호흡련복합물Ⅲ결함병림상표현복잡다양,루급다개계통；복합물Ⅰ+Ⅲ활성이급여저몽산합매활성비치균저우정상대조,이소유환인복합물Ⅰ、Ⅱ、Ⅳ화Ⅴ활성균미발현이상.
Objective To study the clinical and enzymological characteristics of the children with mitochondrial respiratory chain complex Ⅲ deficiency.Method The clinical manifestations of five patients (3 males,2 females) were summarized.Spectrophotometric assay was used for the analysis of respiratory chain complex Ⅰ to Ⅴ enzyme activity in peripheral blood leukocytes,after obtaining venous blood.Result ( 1 ) Five patients were hospitalized at the age of 1 month to 15 years.Three patients had Leigh syndrome with progressive motor developmental delay or regression and weakness.One had severe liver damage and intrahepatic cholestasis.One presented muscle weakness.(2) Deficient complex I + Ⅲ activity was identified in five patients.Their complex Ⅰ + Ⅲ activities in peripheral blood leukocytes were 3.0 to 14.2nmoL/min per mg mitochondrial protein ( control:84.4± 28.5 nmol/min per mg mitochondrial protein ).The ratio of complex Ⅰ + Ⅲ to citrate synthase decreased to 3.5 to 22.9％ ( normal control 66.1 ± 14.7％ ).The activities of complex Ⅲ decreased to 10.4 to 49.3％ of the lowest control value,while complex Ⅰ,Ⅱ,Ⅳ and Ⅴ activities were normal.The results supported the diagnosis of isolated respiratory chain complex Ⅲ deficiency.Conclusion Complex Ⅲ deficiency is a kind of disorder of energy metabolism with various manifestations.The complex Ⅰ + Ⅲ activities and the ratio of complex Ⅰ + Ⅲ to citrate synthase were lower than those of the control.The activities of complex Ⅰ,Ⅱ,Ⅳ and Ⅴ were normal.
