以转氨酶升高为主要临床表现的隐匿性肌肉病分析  

Persistent Hypertransaminasemia as the Presenting Finding of Childhood occult Muscle Disease

作　　者：常杏芝[1] 袁云[1] 秦炯[1] 

机构地区：[1]北京大学第一医院,北京100034

出　　处：《中国医刊》2006年第4期42-44,共3页Chinese Journal of Medicine

基　　金：卫生部医疗机构临床学科重点项目(2001-0912)资助

摘　　要：目的持续的转氨酶升高常被认为是肝脏疾病所致，由于其他系统损伤所导致的转氨酶升高却较少引起重视。我们拟通过对6例以持续转氨酶升高为主要临床表现的儿童肌肉病患者的回顾，探讨转氨酶升高与隐匿性肌肉病的关系。方法对6例肌肉病患儿的病因、临床表现、实验室特点、肌肉病理检查结果进行分析。结果6例患者（男5例，女1例），4例在幼儿园或学校常规体检发现肝功能异常，2例因其他疾病就诊时发现肝功能异常，ALT和AST水平分别为58=760U／L、128～560U／L，被诊断为肝病并接受保肝治疗无效。6例患者来院后均除外了肝脏疾病，4例患者曾有双下肢乏力，四肢肌力略差，2例无异常症状与体征。6例患者血清肌酶水平显著升高（7021-30531U／L），肌电图显示为肌源性损害，其中4例患者行肌肉病理检查。6例患者中5例为进行性肌营养不良，1例为多发性肌炎。结论持续的转氨酶升高可能是隐匿性肌肉病主要或惟一的早期临床表现。详细的病史调查及血清肌酶测定有助于鉴别诊断，必要时应进行肌肉病理检查。Objective Prolonged elevation of the serum alanine aminotransferase （ALT） and aspartate aminotransferase （AST） is often attributed to hepatic diseases. However, these enzymes are also present in a variety of extrahepatic tissues, including skeletal muscle. In order to elucidate the relationship of transaminases to occult muscle disease, we report our experience with 6 children, in whom incidental recognition of elevated serum ALT initiated investigation to identify the cause of suspected hepatocellular injury, and the eventual diagnosis of muscle disease was made. Method Through history was acquired. Measurement of serum creatine kinase activity and careful physical examination were made. The results of clinical data, generalized laboratory examinations and pathologic result of muscle biopsy in all 6 patients were analyzed. Results Six children （5 boys and 1 girl） were reported. The ages of these children were between 2 and 15 years. The neurological findings were all not remarkable. Two of the patients had no symptoms or signs of neuromuscular dysfunction, while the other four had previously unrecognized proximal limb weakness. All six patients had marked elevation of serum creatine kinase activity. The initial ALT and AST values were 58 - 760 U/L and 128 - 560 U/L, respectively. Serum creatine kinase was checked first after 1 to 36 months and found to be markedly elevated （range from 7021 -30531 U/L）. Eletromyography showed low-amplitude short-duration motor unit potentials. Muscle biopsy had been performed in 4 of the 6 patients, in three which showed typical muscular dystrophy changes, manifesting as degenerating and regenerating myofibers with interstitial fibrosis, in the other showed typical polymyositis, manifesting as necrotizing and regenerating myofibers with inflammatory cell infiltration. Other 2 patients were clinically diagnosed with muscular dystrophy. Conclusion Children with elevated serum ALT, in the absence of other signs and symptoms of hepatic injury, may have occult muscular

关 键 词：转氨酶 肌肉病 肌酶 临床表现 

分 类 号：R748[医药卫生—神经病学与精神病学]