儿童进行性肌营养不良16例临床分析

目的本研究目的在于探讨儿童进行性肌营养不良的临床特点,以增加对本病的认识,减少漏诊和误诊.方法本文对我院1993～2002年收治的16例PMD的病历资料进行分析.结果 (1)本组16例PMD中DMD占75%(12/16),比文献报道稍高2];(2)16例患者中9例均有不同程度的肝功损害,而且部分病人以肝功异常为首发症状;(3)PMD患者血清肌酶检测均升高,以CK活性最高,ALT、AST、LDH均有不同程度的升高.结论 (1)PMD是一种常见的遗传性肌源性疾病,其中DMD最常见;(2)PMD的诊断除了根据遗传史、临床特点外,肌电图、肌肉活检、血清酶学检查都是重要的辅助检查手段;(3)临床医生凡遇到不明原因的肝功能异常,应想到本病的可能.

Clinical analysis on 16 cases of children progressive muscular dystrophy

Objective To explore the clinical characteristic of children progressive muscular dystrophy to improve our understanding of PMD and decrease missed diagnosis and misdiagnosis of PMD.Methods The clinical records of 16 children diagnosed as PMD who registered in our hospital from 1993 to 2003 were analyzed.Results (1)Duchenne muscular dystrophy(DMD) takes up 75%(12 cases) in 16 PMD cases,which slightly higher than reference reported.(2)There are different degree liver function lesions in 9 of 16 cases,furthermore,abnormal liver function is primary symptom in some patients.(3)In patients of PMD,all serum enzyme level are raised ,increased activity of CK is the highest,and ALT,AST,LDH all have different degree increased level.Conclusion (1)PMD is a common genetically determined myopathy.DMD is the most common.(2)Besides the diagnosis of PMD can be made according to inherited history and clinical symptoms,electromyography(EMG),muscle biopsy,serum enzyme test all are important aided examinations.(3)Doctor should think about the possibility of PMD for abnormality of liver function without accurate causes.