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[Parenteral symptoms and intestinal complications in children with inflammatory bowel diseases in relation to card15
Urszula Grzybowska-Chlebowczyk1, Halina Woś, Aleksander L Sieroń
1Klinika Pediatrii, SUM, ul. Medyków 16, 40-752 Katowice, Poland. klinikapediatrii@slam.katowice.pl
Insights
Parenteral symptoms and intestinal complications are more common in pediatric Crohn's disease, particularly with CARD15 gene mutations. The L1007fs mutation is linked to intestinal issues in these children.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Inflammatory Bowel Disease Research
Context:
- Inflammatory bowel disease (IBD) encompasses Crohn's disease (CD) and ulcerative colitis (UC), affecting children with distinct clinical and genetic profiles.
- The CARD15 gene is implicated in IBD pathogenesis, with specific mutations potentially influencing disease presentation and complications.
- Understanding genotype-phenotype correlations is crucial for managing pediatric IBD.
Purpose:
- To evaluate the incidence of parenteral symptoms and intestinal complications in children with CD and UC.
- To analyze the association between these symptoms and complications with CARD15 gene mutations (R702W, G908R, L1007fs).
Summary:
- This study examined 38 children with CD and 40 with UC, alongside 23 controls, assessing CARD15 mutations and disease manifestations.
- Parenteral symptoms (arthritis, erythema nodosum) were noted in 18.4% of CD patients and 10% of UC patients.
- Intestinal complications (stenosis, fistula, abscess, bleeding) were frequent in CD (39.5%).
- Parenteral symptoms correlated significantly with CARD15 mutations, while intestinal complications were linked to the L1007fs mutation in CD.
Impact:
- Findings highlight increased parenteral symptoms and intestinal complications in pediatric CD compared to UC.
- Establishes a significant association between CARD15 gene mutations and specific IBD manifestations in children.
- Informs potential genetic screening and personalized treatment strategies for pediatric IBD patients.
The Aim Of The Study:
Was evaluation of the incidence of parenteral symptoms and complications in children with inflammatory bowel disease and their analysis in relation to the examined mutations of CARD15 gene.
Patients And Methods:
The study involved 38 children with Crohn's disease, aged from 5 to18 years (median14) and 40 children with ulcerative colitis, aged from 6 to18 years (median14). The control group included 23 children, aged from 4 to 18 years (median15), with functional disorders of the alimentary tract resulting from lactose intolerance. In all the examined patients as well as in the control group, mutations R702W, G908R and L1007fs of the CARD15 gene were determined, according to the protocol described by Tukel et al.
Results:
Parenteral symptoms, in the group of children with Crohn's disease, manifested as arthritis and erythema nodosum, were observed in 7 patients (18.4%), whereas in the group with ulcerative colitis they presented - in 4 children (10%). Intestinal complications in the form of stenosis, fistula, abscess and gastrointestinal bleeding were the most frequently observed changes in children with Crohn's disease (n=15; 39,5%). Parenteral symptoms were statistically significantly more frequent in children with Crohn's disease and with at least one mutation of CARD15 gene. Intestinal complications statistically appeared more often in children with Crohn's disease and mutation L1007fs.
Conclusions:
1. Parenteral symptoms and intestinal complications occurred more frequently in the group of children with Crohn's disease, in comparison with the children with ulcerative colitis. 2. We observed a relation between parenteral symptoms and at least one mutation of CARD15 gene and a relation between intestinal complications and L1007fs mutation.
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