血清肌酸激酶在筛查孕前假肥大型肌营养不良症携带者中的价值评估

Evaluation of serum creatine kinase in screening of Duchenne muscular dystrophy carriers prior to pregnancy

目的研究肌酸肌酶(CK)检测在筛查孕前假肥大型肌营养不良(DMD)携带者中的应用价值。方法应用速率法/紫外分光光度法对2017年10月至2019年10月在杭州市参加国家免费孕前优生健康检查的孕前女性增加血清CK检测,若CK值高于阈值(≥200 U/L),则按要求复查。复查后仍高于阈值者再行DMD基因检测,分析比较基因突变阳性和阴性组之间的CK结果。结果61870例孕前女性年龄为17~47岁,平均年龄为(34.2±3.4)岁。其中CK增高者1078例,CK复查率达57.33%(618/1078);对120例两次CK水平均大于阈值者进行的基因检测显示,6例确诊为DMD携带者;基因突变阳性者的CK值约为正常值的1~10倍,明显高于基因突变阴性者,差异有统计学意义(P=0.003)。结论CK检测可作为孕前DMD携带者筛查的一种高性价比的方法。

Objective To evaluate the application of serum creatine kinase(CK) in screening the carriers of Duchenne muscular dystrophy(DMD) prior to pregnancy. Methods Roche Cobasc 701/702 using an enzymatic rate method was used to detect serum CK value in pre-pregnancy women who participated in the national free pre-pregnancy eugenics health examination in Hangzhou from October 2017 to October 2019. If CK value was over the threshold(≥200 U/L), it should be rechecked as required. After re-examination, those whose CK value was still higher than the threshold were then tested for DMD gene,and the CK value results between DMD pathogenic carriers and DMD negative groups were analyzed and compared. Results CK value increased in 1078 of 61870 women in reproductive age, and the re-examination rate was 57.33%(618/1078). DMD gene was detected on 120 participants whose CK value was higher than the threshold by repeated CK measurement, and finally 6 participants were diagnosed as definite DMD carriers. The CK value of DMD positive participants was about 1-10 times of the normal value, which was significantly higher than that of DMD negative participants(P=0.003). Conclusion Serum CK value test can be used as an economic and effective method for screening DMD carriers prior to pregnancy.