婴幼儿期Duchenne肌营养不良就诊原因及肌酶谱特点分析

Analysis of reasons for first hospitalization and the characteristics of muscle enzymes of Duchenne muscular dystrophy in infants.

目的探析婴幼儿期Duchenne肌营养不良(DMD)患儿首次至神经专科就诊原因及其肌酶谱特点,旨在帮助临床医生早期识别该病,减少误诊、避免漏诊。方法收集2015年6月至2019年6月期间在深圳市儿童医院神经内科住院的39例3岁前确诊的DMD患儿,回顾性分析其首次至神经专科就诊原因及其血清肌酶谱异常特点和婴、幼儿两个时期的肌酶谱有无变化。结果15例DMD患儿首次至神经专科就诊是因“发现肌酶增高”就诊,9例是因“发现肌酶、肝酶均增高”就诊,12例是因“发现肝酶增高”就诊,仅3例是因“肌无力”就诊,因发现肌酶增高就诊者占61.5%;39例DMD患儿的首次就诊时的肌酶谱同步显著升高,肌酸激酶(CK)和肌肉型肌酸激酶同工酶(CKMM)升高最为显著,CK为正常上限值的53.8~203.1倍,CKMM为正常上限值的22.6~205.0倍,乳酸脱氢酶(LDH)升高至3.2~31.3倍,谷草转氨酶(AST)为正常上限值的3.9~27.2倍;婴儿期和幼儿期DMD患儿的肌酶谱比较差异均无统计学意义(P>0.05)。结论婴幼儿期DMD患儿多数无明显肌无力表现,大部分患儿首次就诊神经专科是因为发现显著升高的肌酶,且幼儿期和婴儿期患儿的肌酶持续处于显著高水平,并未随年龄增长而降低。在诊疗过程中遇到肌酶谱同步显著升高、尤其是CK和CKMM升高数十倍甚至两百余倍的婴幼儿,而心肌炎等常见病因不能解释的,应高度警惕DMD,尽早完善DMD基因等相关检查确诊,尽早联合治疗,以改善生存质量和延长寿命。

Objective To analyze the reasons for first hospitalization to the Department of Neurology and the characteristics of muscle enzymes of Duchenne muscular dystrophy(DMD)in infants,so as to help clinicians to identify the disease early,reduce misdiagnosis and avoid missed diagnosis.Methods A retrospective analysis was conducted on the reasons for the first visit to the Department of Neurology,the abnormal characteristics of muscle enzymes in 39 cases of DMD diagnosed before the age of 3 years,and the changes of muscle enzymes in infants and young children with DMD in Department of Neurology,Shenzhen Children's Hospital from June 2015 to June 2019.Results There were 15 cases went to the Department of Neurology for the first time because of"increased myosin",9 cases because of"increased myosin and liver enzymes",12 cases because of"increased liver enzymes",and only 3 cases because of"muscle weakness",with the reason for"increased myosin"accounting for 61.5%of the total.The muscle enzymes in 39 cases of DMD patients were significantly increased synchronously,and the creatine kinase(CK)and muscle-specific creatine kinase(CKMM)was the most significant.CK increased by 53.8 times to 203.1 times of the upper limit,CKMM by 22.6 times to 205.0 times,lactate dehydrogenase(LDH)by 3.2 times to 31.3 times,and aspartate transaminase(AST)by 3.9 times to 27.2 times.There was no significant difference in muscle enzymes between infants and young children with DMD(P>0.05).Conclusion Most of infants and young children with DMD showed no obvious muscle weakness.Most of the children with DMD first visited the Department of Neurology because they found significantly increased myosin,and the myosin in infancy and young children remained at significantly high levels without decreasing with age.In the process of diagnosis and treatment,infants and young children with significantly increased myosin spectrum,especially those with tens or even more than 200 times of increase in CK and CKMM,and those with common causes such as myocarditis that cannot be explained,should be alert to DMD.It is helpful to improve the diagnosis of DMD gene and other related tests as soon as possible,and combine treatment as soon as possible,so as to improve the quality of life and prolong life.