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中华临床实验室管理电子杂志 ›› 2026, Vol. 14 ›› Issue (02) : 166 -173. doi: 10.3877/cma.j.issn.2095-5820.2026.02.011

综述

基于循证医学和机器学习的自身免疫性疾病检测项目组合新策略构建
储丹丹1, 何培1, 万浩宇1, 虎子单1, 闻玉婷1, 王佳1, 匡野1, 金腾川2, 冯磊1,()   
  1. 1 650051 云南昆明,昆明医科大学附属延安医院检验科
    2 230000 安徽合肥,中国科学技术大学生命科学与医学部
  • 收稿日期:2026-03-21 出版日期:2026-05-28
  • 通信作者: 冯磊
  • 基金资助:
    云南省科技厅-昆明医科大学应用基础研究联合专项重点项目(202301AY070001-024); 云南省科技厅-昆明医科大学联合专项基础研究计划(202501AY070001-194); 昆明市卫生科技人才培养项目医学科技后备人才(2025-SW(后备)-003); 昆明市卫生科技人才培养项目医学技术中心(2024-SW(技)-19)

Construction of a novel testing panel strategy for autoimmune diseases based on evidence-based medicine and machine learning

Dandan Chu1, Pei He1, Haoyu Wan1, Zidan Hu1, Yuting Wen1, Jia Wang1, Ye Kuang1, Tengchuan Jin2, Lei Feng1,()   

  1. 1 Department of Laboratory Medicine, the Affiliated Yan'an Hospital of Kunming Medical University, Kunming Yunnan 650051, China
    2 School of Life Sciences, USTC Life Sciences and Medicine, Hefei Anhui 230000, China
  • Received:2026-03-21 Published:2026-05-28
  • Corresponding author: Lei Feng
引用本文:

储丹丹, 何培, 万浩宇, 虎子单, 闻玉婷, 王佳, 匡野, 金腾川, 冯磊. 基于循证医学和机器学习的自身免疫性疾病检测项目组合新策略构建[J/OL]. 中华临床实验室管理电子杂志, 2026, 14(02): 166-173.

Dandan Chu, Pei He, Haoyu Wan, Zidan Hu, Yuting Wen, Jia Wang, Ye Kuang, Tengchuan Jin, Lei Feng. Construction of a novel testing panel strategy for autoimmune diseases based on evidence-based medicine and machine learning[J/OL]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2026, 14(02): 166-173.

在自身免疫性疾病的诊断、病情监测、预后评估中,自身抗体等相关实验室检测指标具有重要价值,但传统检测实践面临策略不合理、阳性预测值偏低、医疗资源浪费等问题。循证医学强调基于最佳研究证据指导临床决策,机器学习凭借其强大的数据挖掘能力和分析能力,为临床检验项目的管理与选择提供了强有力的支持。本文探讨了基于循证医学与机器学习的自身免疫性疾病检测项目新策略在疾病诊断、分层管理、预后评估中的价值,以系统性红斑狼疮为例构建自身免疫性疾病检测项目组合新策略。新策略在提升诊断效能、强化动态管理及精准分配医疗资源方面展现出显著潜力。但其临床推广仍面临检测平台标准化、训练数据质量及医疗信息化融合等多重挑战。未来,通过多中心数据的积累与临床决策支持系统的深度融合,有望构建质量、效率与成本最优的自身免疫性疾病检测项目组合新策略。

In the diagnosis, disease monitoring, and prognosis evaluation of autoimmune diseases, laboratory markers such as autoantibodies hold significant value. However, traditional testing practices face challenges including suboptimal strategies, low positive predictive value, and wastage of medical resources. Evidence-based medicine emphasizes guiding clinical decisions based on the best available research evidence, while machine learning, with its powerful data mining and analytical capabilities, provides robust support for the management and selection of clinical laboratory tests. This article explores the value of a novel strategy for autoimmune disease testing project selection, grounded in evidence-based medicine and machine learning, in disease diagnosis, stratified management, and prognosis evaluation. Using systemic lupus erythematosus as an example, a novel test pannel strategy for autoimmune disease testing panels is constructed. This novel strategy demonstrates significant potential in enhancing diagnostic efficacy, strengthening dynamic management, and optimizing the allocation of medical resources. However, its clinical implementation still faces multiple challenges, including standardization of testing platforms, quality of training data, and integration with healthcare information systems. In the future, through the accumulation of multi-center data and deep integration with clinical decision support systems, it is expected to establish a novel strategy for autoimmune disease testing panel selection that optimizes quality, efficiency, and cost.

表1 基于EBM和ML的SLE检测项目策略
组合等级 核心检测项目 适用场景 证据来源 证据等级和推荐强度
基础 ANA+dsDNA+SSA+SSB+Jo-1+Sm+nRNP+Scl-70 (1)疑似AID患者初筛;(2)基层医疗机构开展AID筛查;(3)健康人群高危筛查;(4)临床需初步区分SLE、SS等常见自身免疫病时;(5)体检人群的健康管理。 《抗核抗体检测的临床应用专家共识》38;《自身免疫病诊断中抗体检测方法的推荐意见》39;《间接免疫荧光法用于抗核抗体实验室检测的中国专家共识》40;《系统性红斑狼疮自身抗体检测指标临床应用专家共识》41;《中国系统性红斑狼疮诊疗指南(2025版)》42 中等/高质量;强推荐。
进阶 基础组合+Ro52+线粒体抗体+组蛋白抗体+核小体抗体+抗核糖体抗体+着丝点抗体+抗PM-Scl (1)基础检测组合阳性需进一步明确分型;(2)无法通过基础组合明确诊断者;(3)需全面评估疾病严重程度、内脏受累风险;(4)疑难病例、病情反复或疗效不佳者。
高级 进阶组合+尿蛋白+肌酐+ALT+TB+C3、C4+血常规+抗磷脂抗体 (1)监测狼疮性肾炎(lupus nephritis,LN);(2)评估肝损伤;(3)监测疾病活动和血液系统受累;(4)评估血栓事件风险和妊娠并发症风险。
新策略 (1)新型自身抗体:抗LIN28A(IgG/IgA)、抗HNRNPA2B1、抗HMG20B、抗TFCP2;(2)T细胞相关标志TIgG、TIgM、TC4d;(3)代谢组学:N-甲基-L-谷氨酸、L-2-氨基丁酸等 (1)用于传统检测组合无法确诊的疑难病例;(2)新型生物标志物补充。 多项近期研究43,44,45 低质量;弱推荐。
图1 基于EBM和ML的智能化临床决策环
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