转氨酶在杜氏肌营养不良中的诊断价值

Dagnostic Value of Transaminase in Duchenne Muscular Dystrophy

目的分析杜氏肌营养不良(DMD)患儿首次至神经专科就诊的原因及其转氨酶异常特点,帮助临床医生早期识别该病,避免漏诊或误诊。方法回顾性收集2015年1月—2019年11月期间深圳市儿童医院神经内科收治的确诊为DMD患儿70例归为患病组,同时收集同期儿保科体检的健康儿童70例纳为健康组,收集整理两组的谷丙转氨酶(ALT)和谷草转氨酶(AST)的检测值,并比较两组间的区别及特点。同时分析总结患病组首次就诊神经专科的原因。结果患病组的ALT检测值显著高于健康组(P<0.05),且患病组ALT升高幅度多在正常上限值的8.0~10.3倍;患病组的AST检测值亦明显高于健康组(P<0.05),且患病组AST升高幅度多为正常上限值的8.2~10.5倍。70例DMD患儿中有33例首次就诊神经科的原因为“发现转氨酶升高”,占比约47.1%;25例因“发现肌酶升高”;因“肌无力”的仅12例,占比仅17.1%。结论转氨酶升高是DMD患儿首次就诊神经专科的主要原因,且在无明显肌无力症状的疾病早期ALT和AST升高幅度可达正常上限值的数倍甚至十倍以上。临床上遇到转氨酶显著升高至数倍甚至十倍以上而无肝炎、肝病证据的患儿,应高度怀疑DMD,并尽快行DMD基因等检查确诊及尽早联合治疗,提高DMD患儿的生活质量和延长寿命。

Objective To analyze the reasons for the first visit to the Neurology Department of children with duchenne muscu⁃lar dystrophy(DMD)and the characteristics of its transaminase,so as to help clinicians identify the disease early and avoid missed diagnosis or misdiagnosis.Methods 70 children patients diagnosied as DMD from Jan 2015 to Now 2019 were retrospectively collected as patient group,and 70 healthy children who underwent physical examination in the same period were collected as the health group.The test values of ALT and AST in the two groups were collected,and the differences and characteristics between the two groups were compared.And the reasons for the first visit to the Department of Neurology in the sick group were analyzed.Re⁃sults The ALT test value of the sick group was significantly higher than that of the healthy group(P<0.05),and the elevation of ALT in the sick group was 8.0~10.3 times of the normal upper limit.The AST test value of the sick group was also significantly higher than that of the healthy group(P<0.05),and the AST elevation range of the sick group was 8.2~10.5 times of the normal up⁃per limit.Among the 70 cases of DMD,33 cases went to the the Neurology Department for the first time because of“found elevat⁃ed transaminase”,accounting for about 47.1%;25 cases because of“increased muscle enzymes”;due to“myasthenia”only 12 cases,accounting for only 17.1%.Conclusion Elevated transaminase is the main reason for the first visit to the neurology depart⁃ment in children with DMD,and the elevation of ALT and AST in the early stage of DMD is several or even more than 10 times of the normal upper limit.Children with transaminase significantly increased to several or even more than 10 times without evidence of hepatitis or liver disease,should be highly suspicious of DMD.DMD gene and other tests should be performed as soon as possi⁃ble to confirm the diagnosis of DMD,and treatment should be given in the early stage of DMD,so as to improve the quality of life and prolong the life of DMD children.