Vermeire Severine
Gastroenterology Unit, University hospital Gasthuisberg Leuven, Herestraat 49, 3000 Leuven, Belgium.
Best Pract Res Clin Gastroenterol. 2004 Jun;18(3):569-75. doi: 10.1016/j.bpg.2003.12.008.
So far, the relevance of NOD2/CARD15 genotyping for clinical practice is modest. The current data almost unanimously show that NOD2/CARD15 mutations in Crohn's disease are associated with small-bowel involvement. More studies are needed to determine whether NOD2/CARD15 mutations are also associated with a fibrostenotic behaviour of the disease. If CARD15 variants would predict a more aggressive disease course, then a more aggressive treatment is justified in these patients after NOD2/CARD15 genetic testing. It is not clear whether NOD2/CARD15 genotyping is helpful in differentiating indeterminate colitis patients. Although CARD15 variants do not predict response to the TNF alpha monoclonal antibodies, the role of the gene in response to other drugs is not known. Finally, screening unaffected relatives of CD patients is not recommended until preventive strategies are available.
到目前为止,NOD2/CARD15基因分型在临床实践中的相关性不大。目前的数据几乎一致表明,克罗恩病中的NOD2/CARD15突变与小肠受累有关。需要更多的研究来确定NOD2/CARD15突变是否也与该疾病的纤维狭窄行为有关。如果CARD15变异体能够预测疾病进程更具侵袭性,那么在进行NOD2/CARD15基因检测后,对这些患者采取更积极的治疗是合理的。目前尚不清楚NOD2/CARD15基因分型是否有助于鉴别不确定性结肠炎患者。虽然CARD15变异体不能预测对肿瘤坏死因子α单克隆抗体的反应,但该基因在对其他药物反应中的作用尚不清楚。最后,在尚无预防策略之前,不建议对克罗恩病患者的未患病亲属进行筛查。