JPSIM Journal of Pakistan Society of Internal Medicine J Pak Soc Intern Med 2709-8729 2710-0804 Pakistan Society of Internal Medicine 10.70302/jpsim.v6i2.2524 jpsim.v6i2.2524 Original Research Optimizing Tuberculosis Diagnosis: The Role of GeneXpert in Smear-Negative Cases Saeed Haris harissaeed15@gmail.com * Munir Muhammad Kashif Rehman Sana CMH Lahore Medical College and Institute of Dentistry, Lahore Health Research Institute (HRI)- National Institutes of Health (NIH) *Correspondence: Haris Saeed (harissaeed15@gmail.com) 05 06 2025 2025 6 2 123 127 15 10 2024 05 01 2025 15 05 2025 Copyright © 2025 The Author(s) 2025 The Author(s) https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Objective

To observe the efficiency of GeneXpert in confirmation of smear negative pulmonary TB cases.

 Methodology

This descriptive study was conducted at HRI-NIH TB Research Centre King Edward Medical University/ Mayo Hospital Lahore during 23rd December 2020 to 26th May 2021. Those smear negative patients who already started their anti-tubercular treatment and coming for follow-up were not included in this study. After taking informed consent patients suspected of having pulmonary tuberculosis on clinical and radiological grounds but negative sputum smear microscopy were asked to provide a spot sputum specimen in a sterile container and GeneXpert MTB/RIF assay was performed.

 Results

A total of 116 smear negative patients consisted of 64 (55.2%) females and 52 (44.8%) males with male to female ratio of 1:1.23. Mean age of patients was 39.7±15.46 with minimum age of patients as 18 years and maximum of 72 years. Presenting complaints were also recorded; low grade fever and weight loss were present in 100% patients while fatigue was also present in 90.5% patients and anorexia in 83.6% cases. A total of 21 (18.0%) smear negative patients came back as positive for MTB on GeneXpert; of these 13/21 (61.9%) were reported as showing very low quantity and remaining 8/21 (38.1%) showed low quantity while none of the patients showed Rifampicin resistance on GeneXpert.

 Conclusion

Diagnostic delay of smear negative pulmonary TB could be improved by using GeneXpert as 18% smear negative TB cases were confirmed by using this technique in this study which ultimately can prevent considerable morbidity and mortality.

 Keywords Tuberculosis GeneXpert Early diagnosis AFB smear. References WHO Global tuberculosis report 2019. [Updated October 2019, Cited January 2020], Geneva, Licence: CCBY-NC-SA3-0IGO.available from website: [https://apps.who.int/iris/bitstream/handle/10665/329368/9789241565714-eng.pdf?ua=1] Ali A, Munir MA, Sarwar MI, Khaliq S, Munir MK, Rehman S. Tuberculous Pleural Effusions: Efficacy Utilization and Comparison of Various Diagnostic Techniques. Pak J Med Health Sci. 2018;12(4): 1461-4. Munir MK, Rehman S, Iqbal R. Meeting the challenge, making a difference: multidrug resistant tuberculosis in Pakistan. Pak J Med Res. 2018;57(1): 1-2. Munir MK, Rehman S, Iqbal R, Saeed MS, Aasim M. Comparison of gene Xpert MTB/RIF assays with conventional standard proportion method for determination of drug susceptibility in multidrug resistant TB suspects. Ann KEMU. 2018 ;24(1):570-6. Munir MK, Rehman S, Aasim M, Iqbal R, Saeed S. Comparison of Ziehl Neelsen microscopy with GeneXpert for detection of Mycobacterium tuberculosis. IOSR JDMS. 2015;14(11):56-60. Tostmann A, Kik SV, Kalisvaart NA, Sebek MM, Verver S, Boeree MJ et al. Tuberculosis transmission by patients with smear-negative pulmonary tuberculosis in a large cohort in the Netherlands. Clin Infect Dis. 2008;47(9):1135-42. Linguissi LS, Vouvoungui CJ, Poulain P, Essassa GB, Kwedi S, Ntoumi F. Diagnosis of smear-negative pulmonary tuberculosis based on clinical signs in the Republic of Congo. BMC Res Notes. 2015;8(1):804. Shital P, Anil J, Sanjay M, Mukund P. Tuberculosis with diabetes mellitus: clinical-radiological overlap and delayed sputum conversion needs cautious evaluation-prospective cohort study in Tertiary Care Hospital, India. J Pulm Respir Med. 2014;4(2):1-5. Rehman S, Kashif Munir M, Iqbal R, Ahmed Salam A, Saeed S, Masud F et al. Active Case Detection Among Household Contacts of Multi Drug Resistant Tuberculosis Patients in a Tertiary Care Setting. Pak J Med Res. 2014;53(3). Golub JE, Mohan CI, Comstock GW, Chaisson RE. Active case finding of tuberculosis: historical perspective and future prospects. Int J Tuberc Lung Dis. 2005;9(11):1183-203. Rehman S, Iqbal R, Munir MK, Salam AA, Saeed S. Incremental yield of submitting three sputum specimens for the diagnosis of pulmonary tuberculosis. Pak J Med Res. 2013;52(2):35-8. Shinnick TM, Starks AM, Alexander HL, Castro KG. Evaluation of the Cepheid Xpert MTB/RIF assay. Expert Review Mol Diag. 2015;15(1):9-22. Marlowe EM, Novak-Weekley SM, Cumpio J, Sharp SE, Momeny MA, Babst A et al. Kawamura M, Pandori M. Evaluation of the Cepheid Xpert MTB/RIF assay for direct detection of Mycobacterium tuberculosis complex in respiratory specimens. J Clin Microbiol. 2011;49(4):1621-3. Shabbir I, Nazir A, Iqbal R, Khan SU, Munir K. Clinico-pathological profile and treatment outcome in smear negative pulmonary tuberculosis patients at a teaching hospital. Pak J Med Res. 2010;49(2):28-31. Laushkina Z, Filimonov P. Misdiagnosed pulmonary TB: Influencing factors and diagnostic chances in TB hospital. Eur Resp J. 2012;40(1):2702. Akhter N, Rizvi NA. Interstitial Lung Diseases misdiagnosed as tuberculosis. Pak J Med Sci. 2018;34(2):338.