Hofmann-Thiel S, Hoffmann H, Hillemann D, Rigouts L, Van Deun A, Kranzer K
SYNLAB Gauting, Institute of Microbiology and Laboratory Medicine, World Health Organization Supranational Reference Laboratory of Tuberculosis, Gauting.
National and Supranational Reference Laboratory, Leibniz Research Centre Borstel, Borstel, Germany.
Int J Tuberc Lung Dis. 2017 Jul 1;21(7):721-726. doi: 10.5588/ijtld.17.0140.
Molecular tests to detect the presence of Mycobacterium tuberculosis and genetic polymorphisms in the rpoB gene conferring resistance to rifampicin (RMP) have become integral parts of tuberculosis diagnostics worldwide. These assays are often performed sequentially or in parallel to phenotypic drug susceptibility testing. Discordances between molecular and phenotypic tests invariably occur. Root causes range from pre-, post- and analytic errors to co-existence of non-tuberculous mycobacteria, silent mutations, mutations outside the 81 base-pair RMP resistance-determining region, non-canonical mutations conferring increased minimal inhibitory concentrations below the critical concentration in some phenotypic drug susceptibility tests, and heteroresistance. Resolving discordant results is challenging. This guide aims to assist both clinicians and microbiologists in interpreting discordances by providing a structured approach to manage further investigations. Case scenarios are discussed, including the likelihood of occurrence.
检测结核分枝杆菌的存在以及赋予对利福平（RMP）耐药性的rpoB基因中的基因多态性的分子检测，已成为全球结核病诊断的重要组成部分。这些检测通常与表型药物敏感性检测顺序进行或并行进行。分子检测和表型检测之间的不一致总是会出现。根本原因包括前分析、后分析和分析错误，以及非结核分枝杆菌的共存、沉默突变、81个碱基对的RMP耐药决定区域以外的突变、在某些表型药物敏感性检测中导致最低抑菌浓度升高但低于临界浓度的非典型突变，以及异质性耐药。解决不一致的结果具有挑战性。本指南旨在通过提供一种结构化方法来管理进一步的调查，协助临床医生和微生物学家解释不一致情况。文中讨论了病例场景，包括发生的可能性。
