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Mucosal Abnormalities in Children With Congenital Chloride Diarrhea-An Underestimated Phenotypic Feature?
Elena Kurteva1, Keith J Lindley1, Susan M Hill1
1Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Frontiers in Pediatrics
|August 28, 2020
Summary
Congenital chloride diarrhea (CCD), a rare genetic disorder, is often linked with unexpected intestinal inflammation. This study found that three of four children with CCD also exhibited inflammatory bowel disease, suggesting a potential association requiring further investigation.
Area of Science:
- Gastroenterology and genetics
- Rare genetic disorders
- Inflammatory bowel disease
Background:
- Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder caused by mutations in the SLC26A3 gene.
- Characteristic symptoms include lifelong secretory diarrhea and metabolic alkalosis; bowel inflammation is not typically associated with CCD.
- This study investigates the potential link between CCD and inflammatory bowel disease (IBD).
Observation:
- Four children with genetically confirmed CCD were analyzed.
- Three of the four children presented with varying degrees of intestinal inflammation, including colitis and small bowel inflammation.
- One child had granulomatous colitis, another had patchy small bowel and focal active colitis, and a third had mild inflammation in the small bowel and colon.
Findings:
- A significant association between congenital chloride diarrhea (CCD) and panenteric inflammation was observed in this case series.
- Three out of four pediatric patients with CCD exhibited inflammatory bowel changes, indicating a higher prevalence than previously reported.
- The findings suggest that intestinal inflammation may contribute to persistent symptoms in some CCD patients, even with adequate salt replacement.
Implications:
- Clinicians managing CCD should consider intestinal inflammation as a potential complication or contributing factor to treatment resistance.
- Early recognition and management of associated bowel inflammation may improve patient outcomes.
- Further research is needed to elucidate the underlying mechanisms connecting CCD and inflammatory bowel disease.
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