Phenotypic and Genotypic Characterization of Very Early Onset Inflammatory Bowel Disease in Egyptian Children; Single Center Study

Several genetic defects that disrupt intestinal epithelial barrier (IEB) function or affect immune function have been observed in cases with very early onset Inflammatory Bowel Disease (VEO-IBD). This study aimed to study Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years in Egypt. This prospective study was conducted on 32 patients with VEO-IBD. Endoscopy was done to confirm diagnosis and to assess degree of GI involvement. Genetic workup was done through whole exome sequencing. Treatment options included corticosteroids, immunosuppressive, biological therapy and surgery. Outcomes were documented and treatment responses. Positive family history was detected among 34.4% of cases and 46.9% had positive consanguinity. Regarding gross microscopic findings, 53.1% had inflammation mild to moderate, and 43.8% had ulcers. Regarding Genetic mutation, 2 cases had mutation in IL10-R, ITKB and one case for; DCK8, NLRC4, CD40L & XLP2, and 4 cases with no known mutation found indicating possibility of presence of new mutation, 55.1% of studied cases were improved, 34.5% died and 10.7% did not improve. There was statistically significant difference between improved and non-improved cases regarding medical treatment including use of immurane and pentaza. For improved cases more frequent use of pentaza and immurabe was detected than non-improved cases. So, delayed diagnosis is a feature of VEOIBD due to lack of awareness among general practitioners and pediatricians of IBD diagnosis in this age group. Children with VEOIBD need immune and genetic evaluation to exclude syndromes that may require another treatment affecting long-term prognosis.