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Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis
Published on: June 10, 2022
Colonic wall redundancy at CT in patients with cystic fibrosis
Emily M Webb1, Mary Ellen Kleinhenz, Fergus V Coakley
1Department 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. emma.webb@radiology.ucsf.edu
Insights
Colonic wall redundancy is common in adult cystic fibrosis (CF) patients, particularly those with non-DeltaF508 mutations. This CT finding may be misinterpreted as acute disease, highlighting the need for awareness in CF patient management.
Area of Science:
- Gastroenterology
- Radiology
- Genetics
Background:
- Cystic Fibrosis (CF) affects multiple organs, including the gastrointestinal tract.
- Colonic manifestations in CF are not fully understood.
- Understanding colonic changes in CF is crucial for comprehensive patient care.
Purpose of the Study:
- To investigate the appearance and prevalence of colonic wall redundancy in CF patients.
- To explore potential associations between colonic wall redundancy and CFTR gene mutations.
- To determine the clinical significance of this imaging finding.
Main Methods:
- Retrospective analysis of abdominal CT scans from 38 CF patients and 38 controls.
- Independent review of scans by three readers to identify colonic wall redundancy and measure wall thickness.
- Statistical comparison of findings between CF patients and controls, and correlation with CFTR gene mutations.
Main Results:
- Colonic wall redundancy was frequently observed in adult CF patients but not in children.
- Significantly thicker ascending colon walls were noted in CF patients with redundancy.
- Non-DeltaF508 CFTR mutations were more prevalent in adults with colonic wall redundancy.
- Asymptomatic colonic wall redundancy was misdiagnosed as acute colonic disease in five adult patients.
Conclusions:
- Proximal colonic wall redundancy is a common finding in adult CF patients.
- This finding may be associated with specific non-DeltaF508 CFTR gene mutations.
- Further research into the molecular basis of the colonic phenotype in CF is warranted.
Purpose:
To describe the appearance, prevalence, and possible associations of colonic wall redundancy in patients with cystic fibrosis (CF).
Materials And Methods:
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.
Results:
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.
Conclusion:
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.
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