首页|期刊导航|检验医学与临床|基于ADA、GR、VE、Hb、RBC的G6PD缺乏症列线图诊断模型构建及其诊断效能验证

基于ADA、GR、VE、Hb、RBC的G6PD缺乏症列线图诊断模型构建及其诊断效能验证OA

Development and validation of a nomogram diagnostic model for G6PD deficiency based on ADA,GR,VE,Hb and RBC

中文摘要英文摘要

目的 基于血清腺苷脱氨酶(ADA)、谷胱甘肽还原酶(GR)、维生素E(VE)、血红蛋白(Hb)、红细胞计数(RBC)构建葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症列线图诊断模型,并进行效能验证.方法 选取2022年9月1日至2024年12月31日在广东省茂名市妇幼保健院接受G6PD筛查的521例就诊者作为研究对象,根据《葡萄糖-6-磷酸脱氢酶缺乏症新生儿筛查、诊断和治疗专家共识》中G6PD缺乏症的诊断标准将研究对象分为病例组(243例)和对照组(278例).按7∶3比例采用分层抽样法将数据集随机分为训练集和验证集.收集所有研究对象的基线资料,并检测ADA、GR、VE水平.采用LASSO回归分析筛选变量,再用多因素Logis-tic回归分析G6PD缺乏症发生的影响因素,构建列线图诊断模型.绘制受试者工作特征(ROC)曲线、校准曲线及决策曲线对模型进行效能验证.结果 训练集中病例组的总胆红素(TBIL)、直接胆红素(DBIL)、间接胆红素(IBIL)、ADA、GR水平高于对照组,VE、Hb水平及RBC低于对照组,差异均有统计学意义(P<0.05).通过LASSO回归筛选出IBIL、DBIL、VE、ADA、GR、Hb、RBC作为核心变量,多因素Logistic回归分析结果显示,ADA、GR水平升高为G6PD缺乏症发生的独立危险因素(P<0.05),RBC、VE、Hb水平升高为G6PD缺乏症发生的独立保护因素(P<0.05).据此构建的诊断模型表达式为Logit(P)=2.89-0.08XVE+0.85XADA+0.92XGR-0.73XHb-1.47XRBC.ROC曲线分析结果显示,G6PD缺乏症的列线图诊断模型在训练集中诊断G6PD缺乏症的曲线下面积(AUC)为0.98,在验证集中诊断G6PD缺乏症的AUC为0.99.Hosmer-Leme-show检验结果为χ2训练集=4.12,P训练集=0.763,χ2验证集=3.85,P验证集=0.802,诊断概率与实际观察值高度贴合.训练集和验证集决策曲线分析结果显示,模型在阈值0.00~1.00内具有临床净收益.结论 VE缺乏、ADA及GR水平升高、Hb及RBC水平降低与G6PD缺乏症密切相关,本研究构建的G6PD缺乏症列线图诊断模型具有较优的稳定性和诊断效能,为临床早期筛查提供了新工具.

Objective To construct a glucose-6-phosphate dehydrogenase(G6PD)deficiency diagnostic model based on serum adenosine deaminase(ADA),glutathione reductase(GR),vitamin E(VE)and hemo-globin(Hb)and red blood cell count(RBC)to verify its efficacy.Methods A total of 521 patients who un-derwent G6PD screening at Maoming Maternal and Child Health Hospital from September 1,2022 to Decem-ber 31,2024 were selected as the research subjects.According to the diagnostic criteria for G6PD deficiency in the"Expert consensus on screening,diagnosis and treatment of glucose-6-phosphate dehydrogenase deficiency in newborns",the research subjects were divided into the case group(243 cases)and the control group(278 cases).The dataset was randomly divided into the training set and the validation set using stratified sampling with a ratio of 7∶3.Baseline data of all research subjects were collected,and the levels of ADA,GR and VE were detected.LASSO regression analysis was used to screen variables,and then multivariable Logistic regres-sion analysis was used to analyze the influencing factors of G6PD deficiency.A diagnostic model was construc-ted.The receiver operating characteristic(ROC)curve,calibration curve and decision curve were drawn to verify the efficacy of the model.Results The levels of total bilirubin(TBIL),direct bilirubin(DBIL),indirect bilirubin(IBIL),ADA and GR in the case group of the training set were higher than those in the control group,while the levels of VE,Hb and RBC were lower than those in the control group,and the differences were statistically significant(P<0.05).Through LASSO regression,IBIL,DBIL,VE,ADA,GR,Hb,RBC were selected as core variables.The results of multivariable Logistic regression analysis showed that elevated ADA and GR levels were independent risk factors for G6PD deficiency(P<0.05),and elevated RBC,VE,Hb levels were independent protective factors for G6PD deficiency(P<0.05).The expression of the constructed diagnostic model was Logit(P)=2.89-0.08XVE+0.85XADA+0.92XGR-0.73XHb-1.47XRBC.ROC curve a-nalysis showed that the area under the curve(AUC)of the G6PD deficiency diagnostic model for G6PD defi-ciency diagnosis in the training set was 0.98,and the AUC in the validation set was 0.99.The Hosmer-Leme-show test results were χ2 training set=4.12,Ptraining set=0.763,χ2validation set=3.85,Pvalidation set=0.802.The diagnostic probability was highly consistent with the actual observation value.The decision curve analysis of the training set and validation set showed that the model had clinical net benefits within the threshold range of 0.00 to 1.00.Conclusion VE deficiency,elevated ADA and GR levels,decreased Hb level and RBC are closely related to G6PD deficiency.The constructed G6PD deficiency diagnostic model based on this study has better stability and diagnostic efficacy,providing a new tool for clinical early screening.

吕碧绿;罗文英

广东医科大学第一临床医学院,广东 湛江 524023||广东省茂名市妇幼保健院新生儿疾病筛查中心,广东 茂名 525000广东医科大学附属医院检验医学中心,广东 湛江 524001

医药卫生

葡萄糖-6-磷酸脱氢酶缺乏症腺苷脱氨酶谷胱甘肽还原酶维生素E诊断模型

glucose-6-phosphate dehydrogenase deficiencyadenosine deaminaseglutathione reduc-tasevitamin Ediagnostic model

《检验医学与临床》 2026 (3)

358-365,8

广东省自然科学基金面上项目(2025A1515012793)广东省钟南山医学基金会科研资助项目(ZNSXS-20250017)广东省湛江市非资助科技攻关专题项目(2024B01359).

10.3969/j.issn.1672-9455.2026.03.012

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