Mycobacterial genotype is associated with disease phenotype in children

A C Hesseling1, B J Marais, H L Kirchner

  • 1Department of Paediatrics and Child Health, Faculty of Health Sciences, Stellenbosch University, Tygerberg, South Africa. annekeh@sun.ac.za

Insights

Tuberculosis (TB) genotype in children is linked to disease location. Beijing and S genotypes are more common in extrathoracic TB, suggesting a greater ability to spread in children.

Area of Science:

  • Microbiology
  • Genetics
  • Pediatrics

Background:

  • Tuberculosis (TB) remains a significant global health challenge, particularly in high-burden settings.
  • Understanding the factors influencing TB disease presentation in children is crucial for effective management.
  • Mycobacterial genotypes have been implicated in varying disease patterns in adults.

Purpose of the Study:

  • To investigate the association between mycobacterial genotype and disease phenotype in hospitalized children diagnosed with tuberculosis.
  • To determine if specific TB genotypes are linked to intrathoracic versus extrathoracic disease presentation in pediatric TB cases.

Main Methods:

  • A retrospective analysis of 421 Mycobacterium tuberculosis isolates from 392 children diagnosed with culture-confirmed TB in South Africa.
  • Disease phenotype was categorized as intrathoracic or extrathoracic based on culture site.
  • Mycobacterial genotyping was performed using spoligotyping.

Main Results:

  • The Beijing genotype (32.9%) was most prevalent, followed by Latin American Mediterranean (LAM, 28.8%) and S genotypes (6.4%).
  • Children infected with Beijing (OR = 2.36) and S genotypes (OR = 3.47) were significantly more likely to have extrathoracic disease compared to LAM genotype.
  • Age was also found to be significantly associated with genotype.

Conclusions:

  • Mycobacterial genotype is associated with disease phenotype in pediatric TB.
  • Beijing and S genotypes show a higher propensity for extrathoracic dissemination in children.
  • Strain-specific characteristics may contribute to the diverse disease spectrum observed in different geographic regions.
Abstract

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