Genetical, Immunological and Clinical Aspects of Inflammatory Gastrointestinal Disorders in Chilhood

CONCLUSIONS This thesis aimed to define the genetical, immunological and clinical aspects of gastrointestinal inflammatory diseases in pediatrics, with attention to Inflammatory bowel disease (CD and UC) and to Eosinophilic Esophagitis (EoE). The following results were obtained and reported: 1) The characterization of mice with gut specific expression of Interleukin-12 (IL-12) family genes and their susceptibility to experimental colitis; 2) The role of Interleukin-23 receptor (IL-23R) Gene in Pediatric-Onset IBD and Genotype- Phenotype association in a pediatric population affected by IBD; 3) In order to find non invasive and offer the best therapeutical approach to patients affected by IBD we investigated the intestinal permeability test and we found that altered intestinal permeability study is predictive of early relapse in children with steroid responsive UC. 4) Then, we tried to obtain himmunoistochemical markers of small bowel inflammation in children with ulcerative colitis. We demonstrated that the density of CD25+ mononuclear cells is increase in jejunal mucosa of IBD patients, even in absence of gross endoscopic and histopathological abnormalities. 5) We also investigated the new terapeutical approach for IBD. We evaluated the effect of probiotics (VSL#3) on Induction and manteinance of remission in Children with Ulcerative colitis. 6) Finally, we riserve the last chapter of the thesis to EoE, an emerging disease in childhood: the EoE. We describe patients affected by celiac disease that also show the histological pattern of EoE. The unexpectedly high prevalence of CD in this EoE affected population and the probability of an association between gluten-induced disease and EoE prompted us to report these patients.