CAJ | 학술논문

　　目的分析进行性肌营养不良的临床特点，探讨血清肌酸激酶、肌电图、肌肉病理及免疫组织化学检查对其诊断价值，以提高诊断水平。方法回顾性分析2006年01月至2011年12月误诊为肝炎的进行性肌营养不良的25例患儿的临床特征及肌酸激酶、肌电图、基因分析及病理等资料，探讨误诊原因。结果本组25例患儿因起病隐匿，多为幼年起病，早期常无典型肌病表现，由于各种原因偶然发现ALT异常，均误诊为“病毒性肝炎”而就诊于肝病科，发病至确诊时间为1个月～3年。结论遇到无明显诱因的持续肝功能异常且护肝疗效不佳的患儿，应考虑进行性肌营养不良症（PMD），及时进行肌酶、基因检测，必要时行肌电图辅助检查，以利于及早诊断，避免误诊。
　　목적분석진행성기영양불량적림상특점，탐토혈청기산격매、기전도、기육병리급면역조직화학검사대기진단개치，이제고진단수평。방법회고성분석2006년01월지2011년12월오진위간염적진행성기영양불량적25례환인적림상특정급기산격매、기전도、기인분석급병리등자료，탐토오진원인。결과본조25례환인인기병은닉，다위유년기병，조기상무전형기병표현，유우각충원인우연발현ALT이상，균오진위“병독성간염”이취진우간병과，발병지학진시간위1개월～3년。결론우도무명현유인적지속간공능이상차호간료효불가적환인，응고필진행성기영양불량증（PMD），급시진행기매、기인검측，필요시행기전도보조검사，이리우급조진단，피면오진。
Objective To analyze the clinical characteristics of progressive muscular dystrophy (PMD) and discuss the values of serum creatine kinase, electromyogram, muscular pathology and immunohistochemistry in diagnosis of PMD, in order to improve the diagnosis skill. Methods The clinical characteristics, serum creatine kinase electromyogram, genetic analysis and pathological data of 25 children confirmed as PMD were analyzed retrospectively, in order to explore the causes of misdiagnosis. Results All 25 children were all with occult onset mostly in their childhood, and without typical myopathy manifestations at early stage. Due to their abnormal ALT, patients were misdiagnosed as viral hepatitis and treated in liver department. The period from onset to diagnoses was one month to 3 years. Conclusions If we encounter pediatric patients without obvious incentive but with sustained abnormal liver function and poor efficacy in liver protection treatment, the possibility of PMD should be taken into account. Examinations such as CK, genetic detection or electromyogram may contribute to early diagnosis and avoiding misdiagnosis.