肌酶分析在儿童肌病性高肌酸激酶血症鉴别诊断中的意义  

Value of muscle enzyme analysis in differential diagnosis of childhood myopathic hyper-creatine kinase-emia

作　　者：毛冰[1,2] 熊晖[1] 焦辉[1] 魏翠洁[1] 丁娟[1] 常杏芝[1] 杨艳玲[1] 王爽[1] 吴晔[1] 刘雪芹[1] 陈永红[1] 杜军保[1] 李雪迎[3] 姜玉武[1] 秦炯[1] 

机构地区：[1]北京大学第一医院儿科,北京100034 [2]湖北省武汉市儿童医院神经内科 [3]北京大学第一医院医学统计室,北京100034

出　　处：《北京大学学报（医学版）》2014年第1期130-137,共8页Journal of Peking University:Health Sciences

基　　金：国家重点基础研究发展计划(973计划;2012CB944602)资助~~

摘　　要：目的：总结分析儿童肌病性高肌酸激酶（creatine kinase,CK）血症的病因和临床特点,探讨在不同肌病中CK及其他肌酶如乳酸脱氢酶（lactic dehydrogenase,LDH）、天冬氨酸氨基转移酶（aspartate aminotransferase,AST）升高的程度.方法：收集2004年1月至2011年12月北京大学第一医院儿科门诊和住院的235例确诊为各类肌病并且生化检查提示CK增高的患者的临床资料进行综合分析,进一步按病因予以回顾性分析.结果：235例患儿中男180例,女55例,发现CK增高时患儿年龄〈6个月者64例,6个月至3岁者90例,3～6岁者50例,6～14岁者31例; CK显著增高者162例,中度增高者31例,轻度增高者42例.发现CK增高的年龄和CK增高的程度与肌无力症状的严重程度无明确相关性,多数表现为慢性高CK血症,CK值由高至低依次为：Duchenne肌营养不良（Duchenne muscular dystrophy,DMD）＞炎症性肌病＞先天性肌营养不良（congenital muscular dystrophy,CMD）＞代谢性肌病,LDH和AST值依次为：DMD＞炎症性肌病＞代谢性肌病＞CMD,其中代谢性肌病中LDH升高相对较为突出.结论：儿童肌病性高CK血症的病因不同于成人,肌病性高CK血症患儿的起病方式、CK增高的程度和持续时间的考虑对其病因分析有一定帮助,DMD患儿CK升高最为明显,其他依次是炎症性肌病、CMD、代谢性肌病;代谢性肌病患者肌酶波动较大,而先天性肌病和内分泌性肌病肌酶升高不明显.儿童肌病性高CK血症诊断应遵循一定流程,根据临床表现进行生化及代谢筛查、电生理检查、肌活检病理检查及基因检测,并依据病因进行相应治疗.Objective：To summarize the etiology and clinical characteristics of children with myopathic elevated creatine kinase （CK） levels. The degrees of elevated CK as well as lactic dehydrogenase （LDH） and aspartate aminotransferase （AST） levels in different myopathy were analyzed. Methods： The clinical data of 235 cases characterized as myopathic hyper-CK-emia from January 2004 to December 2011 were collected and analyzed. A retrospective analysis of LDH and AST levels according to CK in part of the patients were reviewed. Results： Of the 235 cases, 180 were male and 55 female. According to the age at which hyper-CK-emia was diagnosed, 64 cases were under 6 months, 90 between 6 months and 3 years, 50 between 3 and 6 years and 31 between 6 and 14 years. Their CK levels significantly in- creased in 162 cases, moderately increased in 31 cases, and slightly increased in 42 cases. The age at which hyper-CK-emia was diagnosed and the CK level had no correlation with muscle weakness and the severity. As to CK levels： Duchenne muscular dystrophy （DMD） 〉 inflammatory myopathies 〉 congeni- tal muscular dystrophy （CMD） 〉 metabolic myopathies. LDH and AST levels： DMD 〉 inflammatory my- opathies 〉 metabolic myopathies 〉 CMD. Conclusion： Unlike adults, the etiology of myopathic hyper-CK-emia in children is comphcated and diverse. The onset type, the degree and duration of hyper-CK- emia are helpful to make the diagnosis. CK increases most significantly in DMD, then in inflammatory myopathies, CMD, and metabolic myopathies. Diagnostic flowchart of myogenic hyper-CK-emia should follow a certain process, and the indications of biochemical tests, metabolic screening, electrophysiologi- cal examination, muscle biopsy and genetic testing should be made. Finally, different treatments should be designed according to the etiology.

关 键 词：肌疾病 肌酸激酶 诊断 鉴别 儿童 

分 类 号：R746[医药卫生—神经病学与精神病学]