AI Article Synopsis
- - NOD2/CARD15 is known as a key gene for Crohn's disease, especially in adult cases, and its genetic variations are linked to pediatric Crohn's as well.
- - In a study comparing 10 pediatric patients with NOD2 variations (NOD2 +) to 16 without (NOD2 -), the NOD2 + group showed significantly higher instances of Crohn's-like symptoms, stunted growth, and joint issues.
- - The results suggest that NOD2 polymorphisms could lead to specific health challenges in very early-onset inflammatory bowel disease, indicating the need for further research to inform targeted treatments.
Article Abstract
NOD2/CARD15 was the first susceptibility gene recognized for adult-onset Crohn's (or Crohn) disease (CD). Recessive inheritance of NOD2 polymorphisms has been implicated as a mechanistic driver of pediatric-onset CD. In patients with very early-onset inflammatory bowel disease (VEO-IBD), however, the clinical relevance of NOD2 polymorphisms has not been fully established. Ten VEO-IBD patients with NOD2 polymorphisms ( NOD2 +) were compared to 16 VEO-IBD patients without genetic variants in NOD2 or any other VEO-IBD susceptibility genes ( NOD2 -). The majority of NOD2 + patients exhibited a CD-like phenotype (90%), linear growth impairment (90%), and arthropathy (60%), all of which were significantly more common than in the NOD2 - group ( P = 0.037, P = 0.004, P = 0.026, respectively). We propose that the presence of NOD2 polymorphisms in patients with VEO-IBD might confer a CD-like phenotype, linear growth impairment, and arthropathy. These findings should be validated in larger cohorts and may guide precision medicine for patients with VEO-IBD in the future.
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| http://dx.doi.org/10.1097/MPG.0000000000003846 | DOI Listing |
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