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Tuberculosis treatment spills the beans on Wilson's disease and more

Vikram S Kumar1, S R Dhananjaya2, Shivaraj Gowda1

  • 1Subbaiah Institute of Medical Sciences, Shivamogga, Karnataka, India.

Medical Journal, Armed Forces India
|December 25, 2023
PubMed

Insights

Drug-induced liver injury (DILI) during tuberculosis treatment is common. A rare case showed DILI persisting despite treatment changes, revealing co-occurring Wilson Disease, gonadal dysgenesis, and MRKH syndrome.

Area of Science:

  • Hepatology
  • Genetics
  • Pediatrics

Background:

  • Drug-induced liver injury (DILI) is a significant challenge in treating tuberculosis (TB).
  • Antituberculosis treatment (ATT) modification often resolves DILI, allowing treatment completion.
  • Pediatric DILI from ATT requires careful management.

Observation:

  • A pediatric case of ATT-induced DILI persisted despite ATT regimen modifications.
  • The patient presented with persistent liver injury unresponsive to standard DILI management.
  • This non-resolving DILI prompted further investigation into underlying conditions.

Findings:

  • The persistent DILI was linked to an unreported combination of Wilson Disease, 46 XX gonadal dysgenesis, and Mayer Rokitansky Kuster Hauser (MRKH) Syndrome.
  • Wilson Disease involves copper metabolism, gonadal dysgenesis affects sexual development, and MRKH syndrome is a congenital condition affecting the reproductive system.
  • This constellation of rare genetic and congenital disorders presented as refractory DILI.

Implications:

  • Highlights the importance of considering rare underlying genetic and congenital conditions in pediatric DILI cases unresponsive to standard management.
  • Suggests a potential link or shared pathway between these syndromes and DILI in susceptible individuals.
  • Emphasizes the need for comprehensive diagnostic approaches in complex pediatric hepatology cases.
Keywords:
Drug-induced liver injuryTuberculosisWilson's disease

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