Related Experiment Video

Updated: Mar 29, 2026

Extrahepatic Bile Duct and Gall Bladder Dissection in Nine-Day-Old Mouse Neonates
06:10

Extrahepatic Bile Duct and Gall Bladder Dissection in Nine-Day-Old Mouse Neonates

Published on: August 23, 2022

2.6K

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

Tomáš Dědič1, Milan Jirsa2, Radan Keil3

  • 1Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Plos One
|December 1, 2015
PubMed

Insights

Alagille syndrome can resemble biliary atresia in infants. JAG1 gene mutations were investigated in biliary atresia patients, with findings suggesting no direct association, aiding in accurate diagnosis.

Area of Science:

  • Pediatric Gastroenterology
  • Medical Genetics

Background:

  • Alagille syndrome (ALGS) and biliary atresia (BA) are critical infant liver diseases.
  • JAG1 gene mutations are the primary cause of ALGS type 1.
  • Previous studies suggested a potential link between JAG1 mutations and BA.

Purpose of the Study:

  • To investigate the presence of JAG1 mutations in newborns diagnosed with biliary atresia.
  • To determine if JAG1 mutations contribute to the development of biliary atresia.
  • To clarify the diagnostic overlap between ALGS and BA.

Main Methods:

  • Genetic analysis of the JAG1 gene in 72 newborns with confirmed biliary atresia.
  • Sequencing for nonsense or frameshift mutations in the JAG1 gene.
  • Clinical follow-up of patients identified with JAG1 mutations.

Main Results:

  • JAG1 mutations were identified in 5 out of 72 patients with biliary atresia, all presenting with cholestasis and ambiguous liver histology.
  • These 5 patients later developed characteristic features of Alagille syndrome by age three.
  • No JAG1 mutations were found in the remaining 67 biliary atresia patients.

Conclusions:

  • The study does not support a significant association between JAG1 mutations and biliary atresia in the studied Czech cohort.
  • Early identification of JAG1 mutations can help differentiate Alagille syndrome from biliary atresia, potentially improving patient outcomes.
  • Accurate diagnosis is crucial for appropriate management of these overlapping conditions.

More Related Videos

A New Clarification Method to Visualize Biliary Degeneration During Liver Metamorphosis in Sea Lamprey Petromyzon marinus07:03

A New Clarification Method to Visualize Biliary Degeneration During Liver Metamorphosis in Sea Lamprey Petromyzon marinus

Published on: June 6, 2014

14.3K

Related Concept Videos

Appendicitis-I: Introduction01:22

Appendicitis-I: Introduction

The appendix, a small, narrow, blind tube extending from the inferior part of the cecum, is widely regarded as a vestigial organ, having lost much of its original function through evolution. Despite its diminished role, the appendix can become inflamed, a condition known as appendicitis.
Etiology: Appendicitis can arise from various causes, primarily rooted in the obstruction of the appendix lumen. Factors contributing to this obstruction include fecal accumulation, lymphoid hyperplasia and, in...
3.5K
Gallbladder01:17

Gallbladder

The gallbladder is a small, pear-shaped organ that plays a crucial role in our digestive system. Measuring about 10 cm in length, it is comparable in size to a kiwi fruit and is located in a hollow area on the lower surface of the liver. The gallbladder's primary function is to store and concentrate bile, a fluid produced by the liver that aids in digestion.
The gallbladder's anatomy consists of three regions: the fundus, body, and neck. Extending from the neck, the cystic duct joins...
3.1K
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
2.3K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K