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IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome
- Source :
- Journal of Pediatric Gastroenterology & Nutrition; January 2017, Vol. 64 Issue: 1 p37-41, 5p
- Publication Year :
- 2017
-
Abstract
- Very early onset inflammatory bowel disease (VEOIBD) (inflammatory bowel disease [IBD] before 6 years of age) may manifest as a monogenic disease affecting the gastrointestinal tract. Syndromic diarrhea/trichohepatoenteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation. We reviewed clinical and biological data of 4 previously published cases and added detailed data of 2 new cases of SD/THE with an IBD-like presentation. All the 6 patients presented with typical intractable diarrhea and hair abnormalities. The colon was affected in all of the patients: 1 had ileitis, 2 had panenteritis, and 2 presented with perianal disease. Fecal calprotectin level and erythrosedimentation rate were elevated in 2 cases each. All the therapeutic classes of IBD treatment (mesalazine, steroids, immunomodulators, and biological therapy) were used in the 6 cases. In 2 patients, treatment had no effect. Three showed a partial effect, and 1 patient sustained only a transient effect. SD/THE can have a similar presentation as VEOIBD, often as pancolitis. IBD treatments appear to have little efficacy for SD/THE, suggesting a different pathogenesis for the IBD-like features in SD/THE compared with classical IBD.
Details
- Language :
- English
- ISSN :
- 02772116 and 15364801
- Volume :
- 64
- Issue :
- 1
- Database :
- Supplemental Index
- Journal :
- Journal of Pediatric Gastroenterology & Nutrition
- Publication Type :
- Periodical
- Accession number :
- ejs65094387
- Full Text :
- https://doi.org/10.1097/MPG.0000000000001218