6例杜氏肌营养不良回顾性分析  

A retrospective analysis of 6 children with Duchenne muscular dystrophy

作　　者：殷玉洁[1] 黄玉萍[2] 陆超[1] 孙雪萍 牛丰南[4] 金蕊[1] 周国平[1] 

机构地区：[1]南京医科大学第一附属医院儿科,江苏南京210029 [2]南京医科大学第二附属医院儿科,江苏南京210003 [3]南京医科大学第一附属医院生殖遗传检测中心,江苏南京210029 [4]南京大学附属南京鼓楼医院病理科,江苏南京210008

出　　处：《中国当代儿科杂志》2017年第4期405-409,共5页Chinese Journal of Contemporary Pediatrics

基　　金：国家自然科学基金(81170661);国家自然科学基金青年项目(81300023;81300977);江苏省自然科学基金青年项目(BK20131020);南京大学中央高校经费(021414340267)

摘　　要：目的分析6例杜氏肌营养不良(DMD)患儿的临床特点,并结合文献复习,为早期诊断该病及采取有效治疗措施进行归纳总结。方法收集2010年1月至2015年10月收治的6例DMD患儿的临床资料,进行回顾性分析。结果 6例均为男性,确诊年龄1.2~11.5岁,均无家族史。起病隐匿,均有谷丙转氨酶、谷草转氨酶、乳酸脱氢酶、α-羟丁酸脱氢酶、肌酸激酶、肌酸激酶同工酶同步升高,以肌酸激酶升高最显著、为正常的3.7~107.2倍。基因检测均提示DMD基因突变;其中2例患儿的母亲行基因检测,提示携带相同突变基因。1例行肌肉活检,病理结果符合DMD改变。1例患儿行脐血间充质干细胞移植,5 d后肌酸激酶下降77.0%。结论对血清肌酶异常、运动功能异常的男童,应高度警惕DMD,尽早行CK及基因检测确诊,尽早干预,保护尚存的正常肌纤维,延缓疾病进展。Objective To analyze the clinical features of 6 children with Duchenne muscular dystrophy（DMD） and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease. MethodsA retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015. Results All the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1.2-11.5 years. All patients had insidious onset and increases in alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, α-hydroxybutyrate dehydrogenase, creatine kinase（CK）, and creatine kinase-MB, particularly CK, which was 3.3-107.2 times the normal level. Their gene detection results all showed DMD gene mutation. The gene detection results of two children＇s mothers showed that they carried the same mutant gene. The muscle biopsy in one case showed that the pathological changes confirmed the diagnosis of DMD. The level of CK in one case declined by 77.0% 5 days after umbilical cord blood mesenchymal stem cell transplantation. Conclusions For boys with abnormal serum enzyme levels and motor function, DMD should be highly suspected. It should be confirmed by CK and DMD gene detection as soon as possible. And the progression of the disease could be delayed by early intervention for protecting the remaining normal muscle fibers.

关 键 词：杜氏肌营养不良 肌酸激酶 脐血间充质干细胞移植 早期诊断 儿童 

分 类 号：R723.2[医药卫生—儿科]