Related Experiment Video

Updated: May 1, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

705

Cystic fibrosis and celiac disease--multifaceted and similar

Nelly D Genkova1, Ivan V Yankov1, Miroslava N Bosheva1

  • 1Department of Pediatrics and Medical Genetics

Folia Medica
|April 10, 2014
PubMed

Insights

This report details a rare case of a child with both cystic fibrosis and celiac disease, highlighting the importance of screening for celiac disease in children diagnosed with cystic fibrosis.

Area of Science:

  • Pediatric Gastroenterology
  • Pulmonology
  • Genetics

Background:

  • Celiac disease and cystic fibrosis share overlapping clinical symptoms, complicating diagnosis.
  • The comorbidity of these two conditions is exceptionally rare, estimated at 1:200,000.

Observation:

  • A case study of a 1-year-and-5-month-old child presenting with chronic diarrhea was investigated.
  • The child exhibited symptoms suggestive of both cystic fibrosis and celiac disease.

Findings:

  • Cystic fibrosis was diagnosed via pulmonogram and positive sweat tests, with malabsorption managed.
  • Celiac disease was confirmed through immunological (anti-transglutaminase IgA antibodies) and histological tests, with symptom improvement on a gluten-free diet.
  • This represents the first reported case of concomitant cystic fibrosis and celiac disease in a child in Bulgaria.

Implications:

  • The findings underscore the necessity of considering celiac disease screening in pediatric patients diagnosed with cystic fibrosis.
  • Early and accurate diagnosis of both conditions is crucial for effective management and improved patient outcomes.

More Related Videos

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

23.9K
Chronic Salmonella Infection Induced Intestinal Fibrosis08:40

Chronic Salmonella Infection Induced Intestinal Fibrosis

Published on: September 22, 2019

6.7K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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,...
1.1K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
657
Chronic Bowel Disorders: Introduction01:17

Chronic Bowel Disorders: Introduction

Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
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...
900
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...
35
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...
33
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...
34