NOD2 sequencing in Iranian children with Crohn's disease.

Crohn's disease (CD) is a chronic inflammatory disease of the gastrointestinal tract. Although the exact etiology of disease is still unknown, mutations in the CARD15/NOD2 gene have been reported in association with CD in several studies. This study was performed to determine whether the CARD15/NOD2 gene confers susceptibility to Iranian pediatric patients with CD. All 12 coding exons of the CARD15/NOD2 gene were sequenced in 16 enrolled pediatric onset CD patients. Sequencing of the CARD15/NOD2 gene showed no mutation. However, two patients harbored polymorphisms within this gene. A heterozygous single nucleotide polymorphism rs3135500 C > Y in the exon 12.3 was detected in a 10-year-old girl with mild severity of CD and history of rectovaginal and perianal fistula, and multiple skin tags. The other 5-year-old boy with moderate to severe CD and a history of perianal fissures and oral candidiasis harbored heterozygous single nucleotide polymorphisms in exons 4.1 and 12.1. The results of the present study show that the CARD15/NOD2 mutations in Iranian patients with pediatric onset CD are not responsible for the pathogenesis of disease.

Response to induction therapy in a pediatric population of inflammatory bowel disease.

Crohn's disease (CD) and ulcerative colitis (UC) are two inflammatory bowel diseases (IBD) characterized by chronic intestinal inflammation. In this study, the clinical characteristics of a cohort of pediatric patients with IBD are reviewed and their responses to induction therapy are evaluated. The severity of disease for 43 patients (20 with CD and 23 with UC) was determined using the PCDAI and PUCAI and based on the initial severity, before treatment was started. Following treatment, the severity of disease was re-evaluated at 6 months after the initial diagnosis. The patients in both groups had mild-to-severe disease. The mean PCDAI and PUCAI values were 60.62 +/- 16.48 and 50.95 +/- 9.35, for CD and UC patients, respectively. Most patients (83.7 %) responded to standard treatments with a significant reduction in the PCDAI and PUCAI scores from baseline (p value < 0.001). At the primary endpoint of 24 weeks, 54 % of all patients were in clinical remission; 16 of 23 in the UC group (70 %) and 6 of 20 in the CD group (30 %). The results of this study provide evidence that subgrouping pediatric patients with IBD into distinct clinical phenotypes based on severity of the initial presentation may provide better means of management of this group. This approach can result in a better response to treatment and reduce the side effects of unnecessary therapy.

A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990-2000), in children hospital medical center.

One of the most prevalent manifestations of primary antibody deficiencies is gastrointestinal disorders. In this study we reviewed 83 patients including 25 with X-Linked agammaglobulinemia, 40 with common variable immunodeficiency, 14 with IgA deficiency and 4 with IgG subclass deficiency. The mean age of patients was 10 year (1-28 years). The ratio of male to female was 1.5. Gastrointestinal system was affected in more than half (57.8%) of them. The most common symptom was diarrhea (56.6%) and the most prevalent pathogen was. G. Lamblia. Other disorders were chronic active hepatitis in 6 patients, ulcerative colitis in 2, small intestinal villus atrophy in 5, nodular lymphoid hyperplasia of small intestine in 3 and chronic gastritis in 4 patients. One patient suffered from abdominal lymphoma. We found a direct correlation between failure of patients to thrive and the duration of the delay in diagnosing the underlying disease. This difference was more apparent in those with both antibody deficiency and gastrointestinal involvement.