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目的分析肌酸磷酸激酶(CK)慢性升高患儿的病因。方法回顾性分析50例慢性CK升高3个月以上患儿的临床资料。结果有32例诊断明确,诊断准确率为64%,诊断为dystrophin相关肌肉营养不良症共24例,pompe病共3例,炎症性肌肉病共1例,糖原累积症共2例,线粒体性肌肉病共2例,余18例病因不明。结论慢性CK升高患儿病因复杂,多涉及神经肌肉系统或累及肌肉的代谢性疾病,除常规检查外,应联合应用肌电图、肌肉活检、基因检测等明确病因。
Objective To analyze the etiology of children with chronic elevated creatine phosphokinase (CK). Methods Retrospective analysis of 50 cases of chronic CK increased more than 3 months in children with clinical data. Results 32 cases were diagnosed correctly and the diagnostic accuracy rate was 64%. Twenty-four cases were diagnosed as dystrophin-related muscular dystrophy. Three cases of pompe disease, one case of inflammatory muscle disease, two cases of glycogenosis, mitochondrial Muscle disease in 2 cases, more than 18 cases of unknown etiology. Conclusion Children with chronic CK have complicated etiopathogenis and may be involved in the neuromuscular system or the metabolic diseases involving the muscles. In addition to routine examination, EMG, muscle biopsy and genetic testing should be used in combination.