假肥大型肌营养不良患儿的血清酶学与基因特征分析  

Analysis of serum enzymes and gene mutation in children with Duchenne/Becker muscular dystrophy

作　　者：黄彩芝[1] 张聪[1] 李爱国[1] 莫丽亚[1] HUANG Caizhi;ZHANG Cong;LI Aiguo;MO Liya(The Clinical Laboratory,Hunan Children′s Hospital,Chang-sha 410007,China)

机构地区：[1]湖南省儿童医院检验中心,长沙410007

出　　处：《实用医学杂志》2018年第19期3287-3290,共4页The Journal of Practical Medicine

摘　　要：目的分析假肥大型肌营养不良(DMD/BMD)患儿的血清酶学与基因特征,提高对本病的认识及诊断水平。方法对118例临床诊断为DMD/BMD的患儿进行血清酶学(ALT、AST、LDH、CK、CK-MB、MB、HBDH)与基因检测结果分析。结果所有患儿的血清酶学结果明显高于正常对照组儿童(均P <0.001),学龄前患儿的CK和CK-MB水平明显高于学龄期患儿(均P <0.01);118例患儿中DMD基因检测阳性结果 91例,阴性结果患儿中8例接受基因测序检查,其中6例检出突变;CK、CK-MB及两者联合应用时预测患儿基因诊断阳性的曲线下面积分别为0.74、0.69和0.79。结论血清酶学检测对DMD/BMD筛查具有简便快速、经济可行、依从性好的优点,CK和CK-MB可作为基因诊断预测的指标;而基因检测可明确致病基因,为遗传咨询与未来可能的基因治疗提供依据。Objective To analyze the characteristics of serum enzymes and gene mutation in children with Duchenne/Becker muscular dystrophy(DMD/BMD).Methods Serum enzymes,including ALT,AST,LDH,CK,CK-MB,MB and HBDH,and gene mutation were detected in 118 children with clinical diagnosis of DMD/BMD.Results Activities of serum enzymes in all patients were significantly higher than those in healthy children(P=0.000),the levels of CK and CK-MB in preschool patients were significantly higher than those in school age patients.Ninety-one of the 118 children underwent gene examination had positive results,8 cases of the children with negative results received gene sequencing and 6 of them had gene mutation.The area under curve of CK,CK-MB and the joint of the two indexes for positive gene diagnosis was 0.74,0.69 and 0.79,respectively.Conclusion Detection of serum enzymes has the advantages of simplicity,rapidity,low price,good feasibility and better compli-ance.CK and CK-MB may be good markers in predicting gene diagnosis.Gene analysis can confirm the disease-caus-ing genes,and provide a reliable basis for genetic counseling and probable gene therapy in future.

关 键 词：假肥大型肌营养不良 血清酶学 基因 儿童 

分 类 号：R746.2[医药卫生—神经病学与精神病学]