From the Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Baylor College of Medicine, Texas Children's Hospital, Houston, TX.
the Department of Pediatric Allergy and Immunology, Baylor College of Medicine, Texas Children's Hospital, William T. Shearer Center for Human Immunobiology, Houston, TX.
J Pediatr Gastroenterol Nutr. 2023 Dec 1;77(6):748-752. doi: 10.1097/MPG.0000000000003846. Epub 2023 May 25.
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.
NOD2/CARD15 是首个被识别的成人发病型克罗恩病（或克罗恩病）（CD）易感基因。NOD2 多态性的隐性遗传被认为是儿童发病型 CD 的机制驱动因素。然而，在非常早发性炎症性肠病（VEO-IBD）患者中，NOD2 多态性的临床相关性尚未完全确定。将 10 名携带 NOD2 多态性的 VEO-IBD 患者（NOD2+）与 16 名无 NOD2 或任何其他 VEO-IBD 易感基因遗传变异的 VEO-IBD 患者（NOD2-）进行比较。大多数 NOD2+患者表现出 CD 样表型（90%）、线性生长受损（90%）和关节炎（60%），这些都明显比 NOD2-组更为常见（P=0.037、P=0.004、P=0.026）。我们提出，VEO-IBD 患者中 NOD2 多态性的存在可能导致 CD 样表型、线性生长受损和关节炎。这些发现应该在更大的队列中得到验证，并可能为未来 VEO-IBD 患者的精准医学提供指导。
