Webb Emily M, Kleinhenz Mary Ellen, Coakley Fergus V, Chang Ching-I Belinda, Westphalen Antonio C, Yeh Benjamin M
Department of Radiology , Section of Pulmonary and Critical Care, University of California San Francisco, M372, Box 0628, 505 Parnassus Ave, San Francisco, CA 94143-0628, USA.
Radiology. 2008 Sep;248(3):869-75. doi: 10.1148/radiol.2482071457. Epub 2008 Jul 22.
To describe the appearance, prevalence, and possible associations of colonic wall redundancy in patients with cystic fibrosis (CF).
The institutional review board approved this HIPAA-compliant study. Abdominal computed tomographic (CT) images of 38 consecutive patients with CF and a control group of 38 consecutive potential renal donors were retrospectively identified. Three readers independently recorded presence and location of colonic wall redundancy and wall thickness of the ascending, transverse, and descending colon. Interobserver agreement for colonic wall redundancy was determined with the kappa statistic. Colonic wall thicknesses were compared between patient groups with the Student t test. Proportions of adult and pediatric patients with and those without colonic wall redundancy and prevalence of specific gene mutations were compared between groups with the Fisher exact test. CT findings were compared with radiologic reports and clinical records.
Each reviewer found colonic wall redundancy in 11 of 28 adults with CF but in none of the children with CF (P < .05 for each reviewer). There was excellent interobserver agreement for identification of colonic wall redundancy (kappa = 0.91, P < .001). Mean thickness of the wall of the ascending colon was significantly greater in patients with CF who had colonic wall redundancy (4.0 mm) than in those without this finding (1.8 mm, P < .05) or in control patients (1.2 mm, P < .05). Among adult patients with CF, DeltaF508 mutation was the predominant mutant allele in 10 of 13 patients with normal colons at CT, whereas more uncommon non-DeltaF508 mutations were seen in seven of 10 patients with colonic wall redundancy (P < .05). Asymptomatic colonic wall redundancy at CT was prospectively misinterpreted as acute colonic disease in five adult patients.
Proximal colonic wall redundancy is seen frequently in adults with CF and may be more common in those with non-DeltaF508 CFTR gene mutations. This finding provides a starting point for further investigation of the molecular basis of colonic phenotype in CF.
描述囊性纤维化（CF）患者结肠壁冗余的表现、患病率及可能的关联。
机构审查委员会批准了这项符合健康保险流通与责任法案（HIPAA）的研究。回顾性确定了38例连续的CF患者的腹部计算机断层扫描（CT）图像以及38例连续的潜在肾供体对照组的图像。三位阅片者独立记录结肠壁冗余的存在情况及位置，以及升结肠、横结肠和降结肠的壁厚度。采用kappa统计量确定阅片者间对结肠壁冗余的一致性。采用Student t检验比较患者组间的结肠壁厚度。采用Fisher精确检验比较有和没有结肠壁冗余的成年和儿科患者的比例以及特定基因突变的患病率。将CT检查结果与放射学报告和临床记录进行比较。
每位阅片者在28例成年CF患者中发现11例存在结肠壁冗余，但在儿童CF患者中均未发现（每位阅片者P < 0.05）。在识别结肠壁冗余方面，阅片者间具有极好的一致性（kappa = 0.91，P < 0.001）。有结肠壁冗余的CF患者升结肠壁的平均厚度（4.0 mm）显著大于无此表现的患者（1.8 mm，P < 0.05）或对照组患者（1.2 mm，P < 0.05）。在成年CF患者中，13例CT显示结肠正常的患者中有10例DeltaF508突变为主要突变等位基因，而10例有结肠壁冗余的患者中有7例存在更罕见的非DeltaF508突变（P < 0.05）。在5例成年患者中，CT上无症状的结肠壁冗余被前瞻性地误诊为急性结肠疾病。
近端结肠壁冗余在成年CF患者中常见，在非DeltaF508囊性纤维化跨膜传导调节因子（CFTR）基因突变的患者中可能更常见。这一发现为进一步研究CF结肠表型的分子基础提供了一个起点。
