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Children with Peutz-Jeghers syndrome (PJS) have increased risk of polyp-related complications and emergency laparotomies. The aim of the present study was to assess the efficacy and the safety of endoscopic therapy of small bowel polyps using single-balloon enteroscopy (SBE) in children affected by PJS.

Children with Peutz-Jeghers syndrome (PJS) have increased risk of polyp-related complications and emergency laparotomies. The aim of the present study was to assess the efficacy and the safety of endoscopic therapy of small bowel polyps using single-balloon enteroscopy (SBE) in children affected by PJS. Between January 2010 and December 2011, prospectively consecutive PJS children with polyps >15 mm or polyps actively bleeding previously identified using video capsule endoscopy and magnetic resonance imaging underwent therapeutic SBE. The main outcome measurements were the feasibility, the technical performance, and the safety. A total of 10 children (6 boys; median age 13.7 years, range 5.6–15.6) underwent 23 SBE procedures. Four patients had a history of abdominal surgery. A total of 53 polyps were removed, and 23 of them were >15 mm. The majority of polyps were found in jejunum (85%). The mean insertion depths for antegrade and retrograde approach were 200 ± 80 and 100 ± 50 cm beyond the ileal valve, respectively. The mean procedure time was 75 ± 25 minutes. Mild abdominal pain was reported after 3 procedures. In 1 patient a postpolypectomy perforation occurred. In conclusion, SBE is an effective endoscopic tool for treating small bowel polyps in children with PJS, and well-timed polypectomy may optimize patients' care, preventing polyp-related complications and emergency laparotomy. Further larger multicenter studies are warranted to accurately determine the safety of therapeutic SBE in children.

We investigated the contribution of variants of tumour necrosis factor (TNF)-α and MDR1genes in the predisposition and response to medical therapy in a large pediatric cohort of patients with Crohn disease (CD) and ulcerative colitis (UC).

We investigated the contribution of variants of tumour necrosis factor (TNF)-a and MDR1genes in the predisposition and response to medical therapy in a large pediatric cohort of patients with Crohn disease (CD) and ulcerative colitis (UC). In this study, 200 patients with CD, 186 patients with UC, 434 parents (217 trios), and 347 healthy unrelated controls were investigated. Single-nucleotide polymorphisms -G308A and -C857T of the TNF-a gene and C3435T of the MDR1gene were investigated and correlated with clinical subphenotypes and efficacy of medical therapy. The frequency of the -308A allele of the TNF-a gene was significantly increased in both patients with CD (15%; odds ratio [OR] = 2.79; P< 0.01) and patients with UC (11%; OR = 1.96; P< 0.003) compared with controls (6%). Carriers of this allele were 27% in CD (OR = 2.94; P< 0.01) and 19% in UC (OR = 1.86; P= 0.015) compared with 11% in healthy controls. No significant difference was found for both the -C857T and C3435T single-nucleotide polymorphisms. With the genotype/phenotype analysis, no correlation in patients with UC with the MDR1gene was found. CD carriers of the -308A allele had a higher frequency of surgical resection (35% vs 20%; OR = 2.1; P= 0.035) and more frequent resistance to steroids (22% vs 8%; OR = 0.29; P= 0.032) compared with noncarriers. These findings were confirmed by stepwise logistic regression. In our pediatric cohort, the promoter -308A polymorphism of TNF-a but not the MDR1gene is significantly involved in the predisposition to both CD and UC. This polymorphism carries a significant reduction in response to steroid therapy, probably leading to a more frequent need for surgical resection.