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Related Concept Videos

Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
Inflammatory Bowel Disease II: Ulcerative Colitis01:20

Inflammatory Bowel Disease II: Ulcerative Colitis

Ulcerative colitis is a chronic inflammatory disorder of the colon characterized by continuous mucosal inflammation that typically begins in the rectum and extends proximally in a uniform pattern. Its pathogenesis involves a complex interplay of genetic predisposition, immune dysregulation, and environmental influences. These factors converge to impair the colon’s epithelial defenses and promote an exaggerated inflammatory response against luminal contents.Breakdown of the Mucosal BarrierA...
Inflammatory Bowel Disease I: Ulcerative Colitis01:27

Inflammatory Bowel Disease I: Ulcerative Colitis

Introduction
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...
Inflammatory Bowel Disease II: Crohn's Disease01:30

Inflammatory Bowel Disease II: Crohn's Disease

Introduction
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 transmural...
Inflammatory Bowel Disease I: Introduction01:26

Inflammatory Bowel Disease I: Introduction

Inflammatory bowel disease is a group of chronic disorders marked by recurrent inflammation of the gastrointestinal tract due to an abnormal immune response against gut microflora. This leads to tissue damage. The two main forms are Crohn’s disease and ulcerative colitis.Crohn’s DiseaseCrohn’s disease is a relapsing inflammatory disorder that can affect any part of the GI tract, from the mouth to the anus. It involves all layers of the bowel wall (transmural) and shows “skip lesions” in which...
Inflammatory Bowel Disease IV: Clinical Manifestations01:20

Inflammatory Bowel Disease IV: Clinical Manifestations

Inflammatory bowel disease (IBD) encompasses two major chronic disorders—ulcerative colitis and Crohn’s disease—each characterized by relapsing episodes of gastrointestinal inflammation. Although they share certain clinical features, their patterns of involvement and manifestations differ in ways that aid diagnosis and guide management.Ulcerative ColitisUlcerative colitis is limited to the colon and rectum and involves continuous inflammation of the mucosal layer. The disease course is marked...

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Chronic Salmonella Infection Induced Intestinal Fibrosis
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[Inflammatory bowel disease: genotype-fenotype relationship].

Emilio Gómez de la Concha1

  • 1Académico de Número.

Anales De La Real Academia Nacional De Medicina
|February 22, 2007
PubMed
Summary

Genetic and environmental factors contribute to inflammatory bowel diseases. Specific genes like HLADRB1*0103, IKBL, and NOD2/CARD15 are linked to particular disease subtypes and clinical presentations.

Area of Science:

  • Genetics and Immunology
  • Gastroenterology

Context:

  • Inflammatory bowel diseases (IBD) encompass ulcerative colitis and Crohn's disease.
  • IBD pathogenesis involves complex interactions between genetic predisposition and environmental triggers.
  • Numerous susceptibility genes have been identified, each with varying degrees of influence.

Purpose:

  • To elucidate the specific roles of identified genes in conferring susceptibility to distinct clinical phenotypes of inflammatory bowel diseases.
  • To analyze the association between genetic variations and disease localization, severity, and treatment response.

Summary:

  • HLADRB1*0103 is associated with pancolitis in ulcerative colitis and colonic Crohn's disease.
  • The IKBL gene confers susceptibility to pancolitis in ulcerative colitis, particularly refractory cases.

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  • NOD2/CARD15 is linked to ileal Crohn's disease with a propensity for stenosis.

    • Impact:

    • Understanding gene-phenotype correlations in IBD can refine diagnostic approaches.
    • This knowledge may facilitate the development of targeted therapies for specific IBD subtypes.
    • Identifying genetic risk factors aids in predicting disease course and treatment outcomes.