以转氨酶升高为首发表现的假肥大型肌营养不良临床分析  

Clinical analysis of Duchenne/Becker muscular dystrophy with transaminase elevation as the initial presentation

作　　者：李媛媛[1] 刘卓[1] 欧阳胜荣[1] 曹丁丁 吴建新[1] 

机构地区：[1]首都儿科研究所生物化学研究室,100020

出　　处：《中华实用儿科临床杂志》2017年第24期1877-1881,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：北京市自然科学基金（Z140001）

摘　　要：目的分析以血清转氨酶升高为首发表现的假肥大型肌营养不良患儿的临床特点，以提高临床医师对该病的认识，减少误诊和漏诊。探讨转氨酶升高与假肥大型肌营养不良早期的关系，为早期诊断提供依据。 方法以2012年1月至2014年12月收治的24例以转氨酶升高为首发表现，最终经DMD基因检测或肌活检确诊假肥大型肌营养不良的患儿为研究对象。对其临床表现、诊断过程、血清肌酶、基因分析、肌电图和骨骼肌病理变化等临床资料和实验室检查结果进行回顾性分析。 结果24例患儿均为男性，无家族史，就诊年龄（3.4±1.2）岁（0.8～6.1岁），87.5%（21/24例）的患儿为2～6岁学龄前儿童。21例（87.5%）患儿在幼儿园体检中发现转氨酶升高，1例因术前查体发现，其余2例因上呼吸道感染就诊时发现。因该病起病隐匿，从首次发现患儿转氨酶升高到确诊的时间为0.6～20.4个月。16例（66.7%）出现腓肠肌明显肥大，18例（81.8%）表现出轻重不一的运动障碍，如不能双脚跳、易摔跤、上楼困难等。此外，18.2%（4/22例）的患儿具有语言发育迟缓症状。血清丙氨酸氨基转移酶和天门冬氨酸氨基转移酶水平分别为120.3～761.7 U/L、83.3～675.5 U/L。血清肌酸激酶（CK）显著升高（3 940～27 510 U/L）。肌电图检查显示56.5%（13/23例）的患儿呈肌源性损害。基因检测发现18例（75.0%）为DMD基因缺失突变，4例（16.7%）为重复突变，2例（8.3%）基因检测未见异常者行肌肉活检，其病理结果符合肌营养不良样改变，且免疫组织化学染色显示肌纤维膜上抗肌萎缩蛋白均缺失。 结论假肥大型肌营养不良早期临床表现不典型，易被忽视或误诊。转氨酶升高是早期诊断假肥大型肌营养不良的重要线索。临床遇到持续的转氨酶升高而不能用肝病解释时，应考虑到肌肉病的可能。全面查体和病ObjectiveTo analyze the clinical characteristics of Duchenne/Becker muscular dystrophy （DMD/BMD）with the initial presentation of transaminase elevation, in order to improve the clinician′s understanding of this disease, and reduce misdiagnosis and missed diagnosis.To investigate the relationship between the elevation of transaminase and the early stage of DMD/BMD, and to provide the strategy for early diagnosis. MethodsTwenty-four patients admitted to the hospital with elevated serum transaminase as the initial presentation from January 2012 to December 2014, who were diagnosed as DMD/BMD by genetic testing or muscle biopsy, were enrolled.Their clinical data and laboratory examinations were retrospectively analyzed, including clinical features, diagnostic steps, serum muscle enzymes, genetic analysis, electromyography and muscle pathological changes. ResultsThe 24 patients were all male without family history of DMD/BMD prior to birth.The average visiting age was （3.4±1.2）years （ranging from 0.8 to 6.1 years）, and 87.5% （21/24 cases）of cases were preschool children aged 2-6 years.Hypertransaminasemia was found in 21 cases （87.5%）during the kindergarten physical examination, 1 case during pre-operative investigation and 2 cases during respiratory infection.Due to its insidious onset, the time interval between incidental finding of elevated transaminase and definitive diagnosis was between 0.6 and 20.4 months.Among them, 16 cases （66.7%）had obvious pseudohypertrophy of calf muscles, and 18 cases （81.8%）showed different degrees of movement disorder, such as unable to jump, easy to fall, and difficulty in climbing stairs.In addition, 18.2% cases （4/22 cases）had a delay in language development.The serum alanine aminotransferase and aspartate aminotransferase levels were 120.3-761.7 U/L and 83.3-675.5 U/L, respectively.Serum creatine kinase （CK）was found to be markedly elevated （ranging from 3 940 to 27 510 U/L）in all patients.Electromyography showed myogenic damage in 1

关 键 词：假肥大型肌营养不良 转氨酶 肌酸激酶 

分 类 号：R746.2[医药卫生—神经病学与精神病学]