Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 16, 2024; 12(35): 6826-6833
Published online Dec 16, 2024. doi: 10.12998/wjcc.v12.i35.6826
psk1 virulence gene-induced pulmonary and systemic tuberculosis in a young woman with normal immune function: A case report
Fan Wu, Bin Yang, Yan Xiao, Li-Li Ren, Hong-Yi Chen, Xin-Lan Hu, Yan-Yu Pan, Yu-Sheng Chen, Hong-Ru Li
Fan Wu, Yu-Sheng Chen, Department of Respiratory and Critical Care Medicine, Shengli Clinical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou 350001, Fujian Province, China
Bin Yang, Yan Xiao, Li-Li Ren, NHC Key Laboratory of Systems Biology of Pathogens and Christophe Mérieux Laboratory, Institute of Pathogen Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Hong-Yi Chen, Emergency Department, Shengli Clinical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou 350001, Fujian Province, China
Xin-Lan Hu, Clinical Microbiology Laboratory, Shengli Clinical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou 350001, Fujian Province, China
Yan-Yu Pan, Infection Department, The 900th Hospital of the PLA Joint Support Force, Fuzhou 350001, Fujian Province, China
Hong-Ru Li, Department of Infectious Diseases, Shengli Clinical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, Fuzhou 350001, Fujian Province, China
Author contributions: Wu F, Yang B, Xiao Y, and Chen H contributed to conceptualisation, supervision, evaluation, and manuscript writing and editing; Yang B, Hu X, and Pan Y contributed to methodology; Ren L, Chen Y, and Li H contributed to manuscript writing and editing; All authors have read and approved the final manuscript.
Supported by the Research on Intelligent Recommendation Decision Model of Geriatrics Based on Big Data, No. 2021CX01010136.
Informed consent statement: The patient provided written informed consent to publish this case study and accompanying images.
Conflict-of-interest statement: All authors report no conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hong-Ru Li, MD, PhD, Chief Doctor, Professor, Department of Infectious Diseases, Shengli Clinical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou University Affiliated Provincial Hospital, No. 134 East Street, Fuzhou 350001, Fujian Province, China. muzi131122@163.com
Received: January 2, 2024
Revised: July 2, 2024
Accepted: July 23, 2024
Published online: December 16, 2024
Processing time: 295 Days and 18 Hours
Abstract
BACKGROUND

Tuberculosis is a chronic infectious disease and an important public health problem. Despite progress in controlling tuberculosis, the incidence of tuberculosis in China is still very high, with 895000 new cases annually. This case report describes the investigation of a case of severe disseminated tuberculosis in a young adult with normal immune function, conducted to ascertain why a Mycobacterium tuberculosis (M. tuberculosis) strain caused such severe disease.

CASE SUMMARY

A previously healthy 28-year-old woman presented to our hospital with a 1-month history of fever and fatigue. She was diagnosed with severe disseminated pulmonary tuberculosis, spinal tuberculosis with paravertebral abscesses, and tuberculous meningitis. M. tuberculosis was isolated from bronchoalveolar lavage fluid. She was treated with standard antituberculous therapy and underwent debridement, bone graft, and internal fixation surgery for spinal tuberculosis. She responded to therapy and regained her ability to walk following the surgery. We analysed the whole-genome sequence of the strain and designated it BLM-A21. Additional M. tuberculosis genomes were selected from the Virulence Factor Database (http://www.mgc.ac.cn/cgi-bin/VFs/genus.cgi?Genus=Mycobacterium) for comparison. An evolutionary tree of the BLM-A21 strain was built using PhyML maximum likelihood software. Further gene analysis revealed that, except for the pks1 gene, BLM-A21 had similar virulence genes to the CDC 1551 and H37Rv strains, which have lower dissemination.

CONCLUSION

We speculate that the pks1 virulence gene in BLM-A21 may be the key virulence gene responsible for the widespread dissemination of M. tuberculosis infection in this previously healthy adult with normal immune function.

Keywords: Mycobacterium tuberculosis; Disseminated tuberculosis; Spinal tuberculosis; Tuberculous meningitis; Virulence gene; Whole-genome sequencing; Case report

Core Tip: Tuberculosis is an important public health problem that threatens human health that primarily infects the lungs. We report a case of invasive pulmonary tuberculosis in a young woman with normal immune function. Comparison of the genetic characteristics of the patient’s strain with those of other disease-causing strains suggests that its virulence and wide dissemination was attributable to the presence of the pks1 gene, a genotype that can cause meningitis.