Department of Medicine II, Grosshadern, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany.
J Gastroenterol. 2010 Jul;45(7):721-31. doi: 10.1007/s00535-010-0231-7. Epub 2010 Apr 29.
We analyzed the prevalence of concomitant intestinal stenosis in patients with fistulizing Crohn's disease (CD), including the NOD2/CARD15 and IL23R genotype status.
Medical records of n = 1,110 patients with inflammatory bowel diseases were screened for patients with fistulizing and stricturing CD. Study inclusion required diagnosis of stenosis made within 6 months of diagnosing fistulas. CD-associated NOD2 and IL23R variants were genotyped. Similarly, we prospectively investigated 42 patients presenting with fistulizing CD.
In the retrospective study (n = 333 CD patients), fistulas were found in 145 (43.5%) patients and stenoses in 223 (67.0%) patients. Concomitant stenosis was diagnosed in 125 patients with fistulas resulting in a positive predictive value (PPV) of 86.2% for fistulas predicting intestinal stenosis (p = 5.53 x 10(-11); OR 5.74, 95% CI 3.22-10.50). In logistic regression analysis, presence of fistulas (OR 4.51; 95% CI 2.54-8.01, p = 2.68 x 10(-7)) and disease duration (OR 1.09; 95% CI 1.05-1.13; p = 3.19 x 10(-6)) were strongly associated with intestinal stenosis. NOD2 genotype information, but not IL23R status, increased the PPV for the correct diagnosis of stenosis (PPV = 89.9%). All homozygous carriers (100%) of NOD2 variants with fistulizing CD were diagnosed with stenosis; 1007fs homozygotes were found more often among patients with fistulas and stenoses than in patients without stenoses and fistulas (p = 0.00037). Similar results were found in the prospective analysis, in which 83.3% of the patients with fistulizing CD had concomitant stenosis.
Fistulizing CD is strongly associated with concomitant intestinal stenosis, particularly in homozygous carriers of NOD2 mutations.
我们分析了伴有瘘管的克罗恩病（CD）患者同时存在肠道狭窄的患病率，包括 NOD2/CARD15 和 IL23R 基因型状态。
筛选了 n=1110 例炎症性肠病患者的病历，以确定患有瘘管性和狭窄性 CD 的患者。研究纳入标准为在诊断瘘管后 6 个月内诊断为狭窄。对 CD 相关的 NOD2 和 IL23R 变体进行基因分型。同样，我们前瞻性地调查了 42 例患有瘘管性 CD 的患者。
在回顾性研究（n=333 例 CD 患者）中，145 例（43.5%）患者存在瘘管，223 例（67.0%）患者存在狭窄。在 145 例有瘘管的患者中，有 125 例同时存在狭窄，因此瘘管预测肠道狭窄的阳性预测值（PPV）为 86.2%（p=5.53×10（-11）；OR 5.74，95%CI 3.22-10.50）。在逻辑回归分析中，存在瘘管（OR 4.51；95%CI 2.54-8.01，p=2.68×10（-7））和疾病持续时间（OR 1.09；95%CI 1.05-1.13；p=3.19×10（-6））与肠道狭窄强烈相关。NOD2 基因型信息，但不是 IL23R 状态，增加了对狭窄正确诊断的 PPV（PPV=89.9%）。所有患有瘘管的 CD 的 NOD2 变异纯合携带者（100%）均被诊断为狭窄；1007fs 纯合子在有瘘管和狭窄的患者中比在没有狭窄和瘘管的患者中更为常见（p=0.00037）。在前瞻性分析中也得到了类似的结果，其中 83.3%的瘘管性 CD 患者同时存在狭窄。
瘘管性 CD 与同时存在肠道狭窄密切相关，尤其是在 NOD2 突变的纯合子携带者中。
