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<p>Inflammatory bowel diseases (IBD) are multifactorial diseases that arise from a&#xa0;complex interplay between genetic predisposition, microbial dysbiosis, immunological dysregulation, and environmental factors. Although IBD can manifest at any age, about a&#xa0;quarter of patients develop their first symptoms in childhood or adolescence. Pediatric IBD differs in terms of etiology, clinical presentation, diagnosis, and treatment. A&#xa0;particularly relevant subgroup is very-early-onset IBD (VEO-IBD), which manifests before the age of&#xa0;6 and is associated with a&#xa0;significantly higher likelihood of a&#xa0;monogenetic cause. The underlying defects often affect central immunological signaling pathways and/or the integrity of the intestinal epithelial barrier, leading to distinct and frequently severe clinical phenotypes. Early and comprehensive genetic diagnosis is crucial for the optimal care of affected children, as only precise identification of pathogenic mechanisms enables targeted therapy. Rapid technological advances in molecular diagnostics and functional genetics require close interdisciplinary exchange between science and clinical practice. Continuous integration of new findings can further improve diagnostic and therapeutic quality for children with monogenic IBD, advancing the path toward precision medicine.</p>

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Genetik seltener monogenetischer chronisch-entzündlicher Darmerkrankungen

  • 期刊论文

  • 发表日期：

    2026年3月16日

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  • Sophie Strobel,
  • David Illig,
  • Daniel Kotlarz

摘要

Inflammatory bowel diseases (IBD) are multifactorial diseases that arise from a complex interplay between genetic predisposition, microbial dysbiosis, immunological dysregulation, and environmental factors. Although IBD can manifest at any age, about a quarter of patients develop their first symptoms in childhood or adolescence. Pediatric IBD differs in terms of etiology, clinical presentation, diagnosis, and treatment. A particularly relevant subgroup is very-early-onset IBD (VEO-IBD), which manifests before the age of 6 and is associated with a significantly higher likelihood of a monogenetic cause. The underlying defects often affect central immunological signaling pathways and/or the integrity of the intestinal epithelial barrier, leading to distinct and frequently severe clinical phenotypes. Early and comprehensive genetic diagnosis is crucial for the optimal care of affected children, as only precise identification of pathogenic mechanisms enables targeted therapy. Rapid technological advances in molecular diagnostics and functional genetics require close interdisciplinary exchange between science and clinical practice. Continuous integration of new findings can further improve diagnostic and therapeutic quality for children with monogenic IBD, advancing the path toward precision medicine.