摘要
目的探讨荧光分析法在葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症检测中的应用价值。方法选取2022年3月至2024年3月南平市新生儿筛查中疑似G6PD患儿26885例作为观察对象,采用荧光分析法检测,将临床综合诊断结果作为“金标准”,分析荧光法对G6PD缺乏症的检出率、对检测G6PD质控品的回收率、荧光分析法检测所得受试者血标本中G6PD水平分布情况及基因突变结果。结果临床综合诊断结果显示,确诊为G6PD缺乏症的受试者为234例,荧光分析法对其阳性检出率为98.29%,荧光分析法的检测特异度、准确度、阴性预测值及阳性预测值分别为99.97%、99.96%、99.98%及97.05%,用荧光分析法检测同一组受试者足跟血标本G6PD活性,取高、低2个G6PD质控品,其不同浓度的回收率分别为94.59%、95.82%。在234例确诊患儿中,基因检测结果显示组间酶活性比较差异有统计学意义(P<0.05)。结论荧光分析法对G6PD缺乏症的检出率较高、诊断价值确切,其在临床关于该病的筛查中,能够较为清晰显示G6PD的临界值,便于后续进行追踪、复查,值得临床应用。
Objective To investigate the value of fluorescence analysis in the detection of glucose-6-phosphate dehydrogenase(G6PD)deficiency.Methods A total of 26885 children suspected of G6PD in neonatal screening in Nanping City from March 2022 to March 2024 were selected as the observation objects,the clinical comprehensive diagnosis results were used as the“gold standard”to analyze the detection rate of G6PD deficiency by fluorescence analysis,the recovery rate of G6PD quality control products,the distribution of G6PD levels in blood samples obtained by fluorescence analysis,and the results of gene mutations.Results The clinical comprehensive diagnosis showed that 234 subjects were diagnosed with G6PD deficiency,and the positive detection rate of fluorescence analysis was 98.29%.The detection specificity,accuracy,negative predictive value,and positive predictive value of fluorescence analysis were 99.97%,99.96%,99.98%,and 97.05%,respectively.The G6PD activity of heel blood samples from the same group of subjects was detected by fluorescence analysis.Two G6PD quality control samples,high and low,were taken,and the recovery rates of different concentrations were 94.59% and 95.82%,respectively.Among 234 diagnosed children,genetic testing results showed significant differences in enzyme activity between groups(P<0.05).Conclusions Fluorescence analysis has a better detection rate and diagnostic value for G6PD deficiency,and in the clinical screening of this disease,it can show the critical value of G6PD more clearly,which is convenient for follow-up and review,and is worthy of clinical application.
作者
郭凡
GUO Fan(Medical Genetic Center,Nanping Maternal and Child Health Hospital,Nanping,Fujian 353000,China)
出处
《中国医药指南》
2025年第21期123-125,共3页
Guide of China Medicine
