Long-term follow-up of pediatric-onset patients with OFG shows good prognosis. Patients with OFG do not seem to have otorhinolaryngological comorbidity. Anti-S cerevisiae antibody A may serve as a factor to indicate the possible presence of underlying CD in patients with OFG, but further studies are requested.
Background and aims
Subjects with congenital chloride diarrhea (CLD; a defect in solute carrier family 26 member 3 (SLC26A3)) are prone to inflammatory bowel disease (IBD). We investigated fecal microbiota in CLD and CLD-associated IBD. We also tested whether microbiota is modulated by supplementation with the short-chain fatty acid butyrate.
Subjects and methods
We recruited 30 patients with CLD for an observational 3-week follow-up study. Thereafter, 16 consented to oral butyrate substitution for a 3-week observational period. Fecal samples, collected once a week, were assayed for calprotectin and potential markers of inflammation, and studied by 16S ribosomal ribonucleic acid (rRNA) gene amplicon sequencing and compared to that of 19 healthy controls and 43 controls with Crohn’s disease. Data on intestinal symptoms, diet and quality of life were collected.
Results
Patients with CLD had increased abundances of Proteobacteria, Veillonella, and Prevotella, and lower abundances of normally dominant taxa Ruminococcaceae and Lachnospiraceae when compared with healthy controls and Crohn´s disease. No major differences in fecal microbiota were found between CLD and CLD-associated IBD (including two with yet untreated IBD). Butyrate was poorly tolerated and showed no major effects on fecal microbiota or biomarkers in CLD.
Conclusions
Fecal microbiota in CLD is different from that of healthy subjects or Crohn´s disease. Unexpectedly, no changes in the microbiota or fecal markers characterized CLD-associated IBD, an entity with high frequency among patients with CLD.
Background: Melkersson-Rosenthal syndrome (MRS) is often classified under the term orofacial granulomatosis (OFG). A part of OFG patients eventually develop Crohn's disease (CD), but the relationship between MRS and CD is unknown. Goals: To evaluate the long-term outcomes of MRS patients, with specific interest in bowelrelated symptoms. Study: This follow-up study consisted of adult patients with MRSincluding the monosymptomatic form, cheilitis granulomatosa (CG)who had participated in our earlier MRS study (diagnosed after 1995 in Helsinki University Hospital). A phone interview was conducted with 27 patients (77.1% of the patients from the earlier study) and included questions about orofacial symptoms, facial palsy, intestinal symptoms, concomitant illnesses, medications, possible food avoidances and family history. Stool samples were collected to measure faecal calprotectin, a surrogate marker for intestinal inflammation. Results: The median follow-up time from symptom onset was 30 years. Three (11.1%) patients had developed inflammatory bowel disease (IBD); one CG patient developed CD, and two MRS patients with facial palsy developed ulcerative colitis. In addition, several other patients reported intestinal symptoms, but the examination of faecal calprotectin did not indicate intestinal inflammation. Conclusions: There was a connection between MRS and IBDnot only CD but ulcerative colitis as well. KEY MESSAGE Melkersson-Rosenthal syndrome (MRS) is a chronic condition often classified as a subtype of orofacial granulomatosis. Oral manifestations are common in MRS. We found a connection between MRS and inflammatory bowel disease, not only Crohn's disease but ulcerative colitis as well.
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