Inflammatory bowel disease (IBD) encompasses a heterogeneous group of chronic inflammatory disorders that affect the gastrointestinal tract. There are three main phenotypes within this group: Crohn’s disease (CD), ulcerative colitis (UC) and unclassified IBD. Alterations in gut microbiota, environmental factors, and immune or genetic defects (Th lymphocyte dysregulation, defective cell autophagy processes, or altered inflammatory signals) are associated with the development of IBD. While it usually appears in young adults, early onset cases are also common during childhood or in the neonatal period; these are characterized by more severe phenotypes. It has been estimated that 25-30% of pediatric IBD cases have a positive family history, which suggests the existence of a variable hereditary component that would support the indication for genetic testing.
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