6例杜氏肌营养不良回顾性分析

发布时间：2018-04-30 17:46

本文选题：杜氏肌营养不良 + 肌酸激酶　；参考：《中国当代儿科杂志》2017年04期

【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。
[Abstract]:Objective to analyze the clinical characteristics of 6 children with DMDD and summarize the early diagnosis and effective treatment of DMDs. Methods the clinical data of 6 patients with DMD from January 2010 to October 2015 were retrospectively analyzed. Results all the 6 cases were male, the age of diagnosis was 1.2 or 11.5 years old, all of them had no family history. There were alanine aminotransferase, lactate dehydrogenase, 伪 -hydroxybutyrate dehydrogenase and creatine kinase isozyme in all cases. The results of gene analysis indicated that DMD gene was mutated, and that the mother of 2 cases had the same mutation gene. 1. 1 muscle biopsy was performed. The pathological results were consistent with the changes of DMD. 1 cases received umbilical cord blood mesenchymal stem cell transplantation for 5 days, and creatine kinase decreased 77.0%. Conclusion the boys with abnormal serum muscle enzymes and abnormal motor function should be on high alert to DMDs, make the diagnosis of CK and gene detection as soon as possible, intervene as soon as possible, protect the remaining normal muscle fibers, and delay the progress of the disease.
【作者单位】：南京医科大学第一附属医院儿科;南京医科大学第二附属医院儿科;南京医科大学第一附属医院生殖遗传检测中心;南京大学附属南京鼓楼医院病理科;
【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)
【分类号】：R723.2

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