Haas Allison L, Ma Angela, Pham Jonathan, Verma Punam, Malhotra Uma, Church E Chandler, Narita Masahiro, Escuyer Vincent, Shakir Salika M
Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Division of Infectious Diseases, ARUP Laboratories, Salt Lake City, Utah, USA.
Open Forum Infect Dis. 2025 Mar 5;12(4):ofaf132. doi: 10.1093/ofid/ofaf132. eCollection 2025 Apr.
Current U.S. Centers for Disease Control and Prevention tuberculosis (TB) guidelines recommend molecular testing for initial diagnosis of TB and detection of rifampin resistance to expedite initiation of proper treatment. The Cepheid Xpert MTB/RIF assay can detect members of the complex and rifampin resistance by evaluating for mutations in the gene. However, false-positive and false-negative detection of and rifampin resistance results can lead to incorrect treatment of patients, including overuse of second-line anti-TB drugs, and may result in patient harm and increased healthcare cost. We present a series of 4 cases to demonstrate the limitations of the Xpert MTB/RIF assay in the diagnosis of TB, emphasizing the importance of follow-up confirmatory testing and laboratory oversight in reporting accurate results.
美国疾病控制与预防中心现行的结核病（TB）指南建议进行分子检测，用于结核病的初始诊断以及利福平耐药性检测，以加快启动适当治疗。赛沛Xpert MTB/RIF检测可通过评估基因中的突变来检测结核分枝杆菌复合群成员及利福平耐药性。然而，结核分枝杆菌复合群及利福平耐药性检测的假阳性和假阴性结果可能导致患者治疗不当，包括二线抗结核药物的过度使用，并可能对患者造成伤害，增加医疗成本。我们报告了4例病例，以证明Xpert MTB/RIF检测在结核病诊断中的局限性，强调后续确证检测和实验室监督在报告准确结果方面的重要性。
