【摘要】 目的明确慢性血清肌酸磷酸肌酶(CK)升高的儿童患者的病因诊断。方法对2005-01—2007-03,北京协和医院遗传门诊入院的CK持续升高超过3个月患儿的临床资料进行回顾性分析。结果16例获得诊断,确诊率64%,诊断分别为:7例dystrophin相关肌营养不良症,1例携带者;2例Pompe病,1例糖原累积症;1例线粒体肌肉病,1例戊二酸尿症,2例炎症性肌肉病,1例脊肌萎缩症。其余9例未能明确诊断。结论血清肌酶持续增高在儿童病人多提示神经肌肉疾病或累及肌肉的代谢性疾病,病因复杂,除常规生化检查外,肌电图、肌活检、酶生化测定、基因检测等多种检查的综合应用有助于提高诊断率。更多还原

【Abstract】 Objective To establish the diagnosis of juvenile patients with chronic elevation of serum creatine kinase(CK) levels.Methods We made a retrospective evaluation of 25 juvenile patients with hyperCKemia over three months in the genetic clinic of our department between January 2005 and March 2007.Clinical data,neurological examination and laboratory examinations were analysized.All the patients underwent open muscle biopsy.Biochemical and genetic investigation were added in selected cases.Results There were 7 females and 18 males aged between 2 years 9 months and 15 years [mean 7.8y].The disease duration were beween 3 months and 7 years.Serum CK levels were between 285 and 15720 U/L(18~198U/L).We made a diagnosis in 16 patients.The diagnosis included dystrophinopathies in 8 patients,Pompe disease in 2 patients,glycogenosis type III in 1 patient,mitochondrial myopathies in 1 patient; glutaric aciduria type II in 1 patient;spinal muscular atrophy in 1 patients; inflammatory myopathies in 2 patients.Diagnosis were not able to be confirmed in 9 patients;pathological but not conclusive muscle changes were found in 6 patients.Conclusion Neurological and metabolic myopathies disease are the main causes of persistent hyperckemia in children,muscle biopsy as well as biochemical and genetic investigations were essential to the diagnosis.更多还原