Related Experiment Video
Updated: Aug 8, 2025
Chronic Salmonella Infection Induced Intestinal Fibrosis
Published on: September 22, 2019
[Pediatric very early onset inflammatory bowel disease: Role of pathology]
Philippe Drabent1, Dominique Berrebi1
1Service d'anatomie et cytologie pathologiques, hôpitaux universitaires Necker-Enfants malades et Robert Debré, AP-HP, université de Paris, 149, rue de Sèvres, 75015 Paris, France.
Insights
Very early onset inflammatory bowel diseases (VEO-IBD) in young children are often monogenic. This review details the clinical features, genes, and histology of monogenic VEO-IBD.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Immunology
Context:
- Inflammatory bowel diseases (IBD) encompass Crohn's disease and ulcerative colitis, characterized by immune dysregulation in genetically susceptible individuals.
- Very early onset inflammatory bowel diseases (VEO-IBD), affecting children under six, frequently present as monogenic disorders, accounting for over a third of cases.
- Over 80 genes are implicated in VEO-IBD, yet detailed pathological descriptions remain limited.
Purpose:
- To clarify the clinical manifestations of monogenic VEO-IBD.
- To identify the primary causative genes associated with monogenic VEO-IBD.
- To outline the diverse histological patterns observed in intestinal biopsies from VEO-IBD patients.
Summary:
- Monogenic VEO-IBD presents distinct clinical features and is linked to over 80 genes.
- Histological examination of intestinal biopsies reveals varied patterns in monogenic VEO-IBD.
- Genetic analysis is crucial for diagnosing and understanding the pathogenesis of VEO-IBD.
Impact:
- Provides a comprehensive overview of monogenic VEO-IBD for clinicians and researchers.
- Highlights the importance of a multidisciplinary approach involving pediatric gastroenterologists, immunologists, geneticists, and pathologists.
- Aids in the accurate diagnosis and tailored management of pediatric patients with VEO-IBD.
Abstract:
Inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis, are a heterogeneous group of multifactorial pathologies, often polygenic, due to a dysregulated immune response in a genetically susceptible host. In children under 6 years of age, a significant proportion of IBD, named "very early onset inflammatory bowel diseases" (VEO-IBD), are monogenic disorders in more than one third of cases. Over 80 genes have been linked to VEO-IBD and pathological descriptions are sparce. In this clarification, we describe the clinical aspects of monogenic VEO-IBD and the main causative genes, as well as the various histological patterns observed in intestinal biopsies. The management of a patient with VEO-IBD should be a coordinated effort by a multidisciplinary team including pediatric gastroenterologists, immunologists, geneticists, and of course pediatric pathologists.
Related Concept Videos
01:30Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
01:17Chronic Bowel Disorders: Introduction
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
01:29Inflammatory Bowel Disease IV: Pharmacological Management
Pharmacologic...