支气管肺泡灌洗液宏基因组二代测序在儿童难治性肺炎诊治中的应用

Application of metagenomic next-generation sequencing of bronchoalveolar lavage fluid in the diagnosis and treatment of refractory pneumonia in children

摘要:

目的 探讨支气管肺泡灌洗液（bronchial alveolar lavage fluid, BALF）宏基因组二代测序（metagenomic next-generation sequencing, mNGS）在儿童难治性肺炎（refractory pneumonia, RTP）病原学诊断及治疗中的临床应用。方法 回顾性选取2020年1月—2023年3月内蒙古自治区妇幼保健院儿内科收治的RTP患儿160例为研究对象，根据是否进行mNGS检测分为mNGS组（80例）和传统检测组（80例）。两组患儿入院后均予完善炎症指标检测及传统病原学检测。传统病原学检测包括：微生物培养（吸痰管采集痰液标本）、呼吸道病原核酸检测、血清学检测（支原体、结核、真菌）。mNGS组完善支气管镜检查后留取BALF标本同时送检mNGS和微生物培养。分析比较两组病原体检出情况及治疗情况。结果 mNGS组较传统检测组病原体检出率更高（92% vs 58%，P<0.05），且检出病原体种类更多，对混合感染的诊断率更高。mNGS组治疗总体有效率高于传统检测组，住院期间并发症发生率低于传统检测组（P<0.05）。mNGS组中68例患儿根据mNGS结果调整治疗，调整后总体有效率为96%（65/68）。结论 相对于传统病原学检测，BALF mNGS可显著提高病原体检出率，可发现部分少见病原体，临床工作中当RTP患儿诊疗过程中遇到瓶颈时应尽早完善mNGS明确病原。

Abstract:

Objective To investigate the clinical application of metagenomic next-generation sequencing (mNGS) of bronchoalveolar lavage fluid (BALF) in the etiological diagnosis and treatment of refractory pneumonia (RTP) in children.Methods A retrospective analysis was performed on 160 children with RTP who were admitted to the Department of Pediatric Internal Medicine, Maternal and Child Health Hospital of Inner Mongolia Autonomous Region, from January 2020 to March 2023. According to whether mNGS was performed, they were divided into two groups: mNGS (n=80) and traditional testing (n=80). All children received the tests of inflammatory markers and pathogen tests after admission. Traditional pathogenicity tests included microbial culture (sputum specimen collected by suction tube), nucleic acid detection of respiratory pathogens, and serological test (mycoplasma, tuberculosis, and fungi). For the mNGS group, BALF specimens were collected after bronchoscopy and were sent to the laboratory for mNGS and microbial culture. The two groups were analyzed and compared in terms of the detection of pathogens and treatment.Results Compared with the traditional testing group, the mNGS group had a significantly higher detection rate of pathogens (92% vs 58%, P<0.05), with more types of pathogens and a higher diagnostic rate of mixed infections. Compared with the traditional testing group, the mNGS group had a significantly higher treatment response rate and a significantly lower incidence rate of complications during hospitalization (P<0.05). Treatment was adjusted for 68 children in the mNGS group according to the results of mNGS, with a treatment response rate of 96% (65/68) after adjustment.Conclusions Compared with traditional pathogen tests, BALF mNGS can significantly improve the detection rate of pathogens and find some rare pathogens. In clinical practice, when encountering bottlenecks during the diagnosis and treatment of children with RTP, it is advisable to promptly perform the mNGS to identify the pathogens.