液相色谱-串联质谱技术在临床检验中的应用研究进展

液相色谱-串联质谱（LC-MS/MS）技术具有高灵敏度、高特异性、高分辨率和高效率的优点。近年来随着仪器灵敏度的提高，LC-MS/MS在常规临床检验中显示出极大的潜力，并在疾病早期预防和诊断中发挥着不可替代的作用。本文对LC-MS/MS在新生儿疾病筛查、维生素D检测、内分泌激素检测、肽类和蛋白质定量分析等临床检验方面的研究进展进行综述，并讨论了未来面临的挑战。

Progress in the Application of Liquid Chromatography-Tandem Mass Spectrometry in Clinical Diagnosis

The blood, body fluid and other samples of patients collected by clinical laboratory can be detected to find disease markers through different methods, so as to provide clinicians with an important basis for disease prevention, diagnosis, curative effect and prognosis. LC-MS/MS is an analytical instrument with high sensitivity, high specificity, high resolution and high efficiency. In recent years, with the improvement of instrument sensitivity, LC-MS/MS showed great superiority, practicability and development potential in analytical and clinical practices, thus many diseases can be diagnosed accurately, quickly and sensitively in the early stage. For example, LC-MS/MS was used for neonatal screening, and it could screen more than 30 disease markers including various amino acids and carnitine simultaneously. Comparing with immunoassay, LC-MS/MS applied to endocrine hormones can simultaneously determine a variety of analytes and provide structural information of analytes. It has the advantages of high throughput and high specificity. Due to the expensive instruments and the cost of training, only a few clinical laboratories have the ability to develop and verify LC-MS/MS method. Based on the inherent limitations of the instrument, such as matrix effect and ion suppression effect, the efficiency of the method was decreased, resulting in challenges in the process of method development. In addition, the technical levels of different clinical laboratories are uneven, so it is necessary to establish corresponding reference measurement methods and reference ranges for clinical analysis. The standardization of quantitative results is significant for laboratory to build the traceability system. The research progress of the application of LC-MS/MS in clinical practices was introduced, and the advantages and disadvantages of the application of LC-MS/MS in neonatal screening, vitamin D detection, endocrine hormone detection, therapeutic drug concentration monitoring and protein quantitative analysis were discussed in the review. Finally the possible challenges and the recent advancement that clinical laboratories may confront in the application of LC-MS/MS were discussed.