高通量测序技术在骨关节结核诊疗中的研究进展

doi:10.19982/j.issn.1000-6621.20240358

摘要/Abstract

摘要：

骨关节结核约占肺外结核的10%,传统的诊断方法如分枝杆菌培养和免疫学检测存在敏感度低、误诊率和漏诊率高等问题。GeneXpert MTB/RIF在骨关节结核的诊断中具有重要作用,但存在无法检测其他病原菌、肺外结核检测敏感度有限等不足。高通量测序技术不仅提供了快速和精确的病原体检测方法,还在骨关节结核治疗指导和耐药性检测方面显示出巨大的潜力。作者就高通量测序技术在骨关节结核中的应用进行综述,以期为该疾病的诊断和治疗提供参考。

关键词: 结核,骨关节, 高通量测序技术, 药物耐受性

Abstract:

Osteoarticular tuberculosis constitutes approximately 10% of all extrapulmonary tuberculosis cases. Traditional diagnostic methods, such as mycobacterial culture and immunological assays, are hindered by low sensitivity and high rates of misdiagnosis and missed diagnosis. The GeneXpert MTB/RIF molecular diagnostic technology has been pivotal in diagnosing osteoarticular tuberculosis; however, it has notable limitations, including an inability to detect non-tuberculous pathogens and reduced sensitivity in extrapulmonary samples. In contrast, high-throughput sequencing (HTS) technology provides a rapid, highly accurate method for pathogen detection, and it holds substantial promise for guiding treatment strategies and identifying drug resistance in osteoarticular tuberculosis. The review aims to explore the advancements in HTS technology applications in diagnosing and managing osteoarticular tuberculosis, offering new perspectives to improve disease control.

Key words: Tuberculosis, osteoarticular, High-throughput sequencing technology, Drug resistance

中图分类号:

R37
R529.2

徐子安, 浦飞飞, 冯晶, 夏平. 高通量测序技术在骨关节结核诊疗中的研究进展[J]. 中国防痨杂志, 2025, 47(2): 224-230. doi: 10.19982/j.issn.1000-6621.20240358

Xu Zian, Pu Feifei, Feng Jing, Xia Ping. Research progress of high-throughput sequencing technology in the diagnosis and treatment of osteoarticular tuberculosis[J]. Chinese Journal of Antituberculosis, 2025, 47(2): 224-230. doi: 10.19982/j.issn.1000-6621.20240358

图/表 1

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测序方法	特点	优点	缺点	应用场景
宏基因组测序	无偏性测序,可检测样本中的所有病原体	高敏感度和特异度;不依赖培养;快速	易受到背景细菌干扰;成本较高;数据分析复杂	病原体鉴定;复杂感染病例;未知病原体检测
全基因组测序	对整个基因组进行测序	可获得完整的基因组信息;适用于药物敏感性分析	成本高;依赖于结核分枝杆菌培养;需要生物信息学专业知识	耐药性分析;流行病学研究;菌株进化研究
靶向测序	综合PCR扩增和高通量测序	可检测多种抗结核药物耐药基因;敏感度和特异度高	不能检测所有病原体;需要特定的靶标区	耐药性基因检测;快速耐药筛查;小范围基因组分析