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Related Concept Videos

Chronic Pancreatitis I: Introduction01:25

Chronic Pancreatitis I: Introduction

Chronic pancreatitis is a long-standing, relapsing inflammation of the pancreas, characterized by irreversible damage to the gland. It results in progressive destruction of the pancreatic parenchyma, fibrosis, and eventual loss of both exocrine and endocrine function. The disease may evolve gradually after multiple episodes of acute pancreatitis or develop independently.EtiologyChronic pancreatitis can arise from a variety of causes:Alcohol use is the leading cause, accounting for 70–80% of...
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
Chronic Pancreatitis II: Pathophysiology01:21

Chronic Pancreatitis II: Pathophysiology

Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...
Cirrhosis II: Pathophysiology01:24

Cirrhosis II: Pathophysiology

Cirrhosis is a progressive chronic liver injury caused by prolonged inflammation, excessive fibrotic remodeling, and impaired regeneration. Over time, repeated hepatic insults disrupt the liver’s architecture and function, leading to reduced blood flow, impaired bile drainage, and diminished metabolic capacity.Pathophysiology of cirrhosisCirrhosis arises from three main responses to chronic liver damage: inflammation, immune activation, and hepatocyte death. These processes lead to structural...
Cholecystitis01:20

Cholecystitis

Cholecystitis is inflammation of the gallbladder, most commonly caused by obstruction of the cystic duct. This blockage prevents bile from draining, leading to gallbladder distension, inflammation, and potentially serious complications. This condition may present acutely or chronically and can happen with or without gallstones.EtiologyAbout 95% of cholecystitis cases are calculous, caused by gallstones blocking the cystic duct, leading to bile accumulation and inflammation of the gallbladder...
Cirrhosis I: Introduction01:23

Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...

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Related Experiment Video

Updated: Jun 26, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
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Progressive familial intrahepatic cholestasis.

Anne Davit-Spraul1, Emmanuel Gonzales, Christiane Baussan

  • 1Biochemistry, Bicêtre Hospital, University of Paris-sud XI, Assistance Publique-Hôpitaux de Paris, Paris, France. anne.spraul@bct.aphp.fr

Orphanet Journal of Rare Diseases
|January 10, 2009
PubMed
Summary

Progressive familial intrahepatic cholestasis (PFIC) comprises genetic disorders disrupting bile formation in children. Early diagnosis and management, including UDCA therapy, are crucial for preventing liver disease progression.

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Isolation of Neonatal Extrahepatic Cholangiocytes
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Isolation of Neonatal Extrahepatic Cholangiocytes
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Isolation of Neonatal Extrahepatic Cholangiocytes

Published on: June 5, 2014

Area of Science:

  • Hepatology
  • Genetics
  • Pediatric Gastroenterology

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) is a group of rare, autosomal recessive childhood disorders.
  • These conditions disrupt bile formation, leading to cholestasis of hepatocellular origin with an estimated incidence of 1/50,000 to 1/100,000 births.

Purpose of the Study:

  • To review the genetic basis, clinical manifestations, diagnosis, and management of PFIC.
  • To highlight the importance of early detection and current therapeutic strategies.

Main Methods:

  • Review of literature on PFIC, focusing on genetic defects, clinical presentations, diagnostic tools, and treatment options.
  • Analysis of diagnostic criteria including clinical signs, imaging, histology, and genetic testing.

Main Results:

  • Three main types of PFIC (PFIC1, PFIC2, PFIC3) are linked to mutations in genes affecting bile salt and phospholipid transport.
  • Clinical features include cholestasis, pruritus, and jaundice, often progressing to liver fibrosis and end-stage liver disease.
  • Serum gamma-glutamyltransferase (GGT) is normal in PFIC1/PFIC2 but elevated in PFIC3.

Conclusions:

  • Accurate diagnosis relies on a combination of clinical, biochemical, imaging, and genetic findings.
  • Ursodeoxycholic acid (UDCA) therapy is recommended for all patients; liver transplantation remains the definitive treatment for most.
  • Emerging therapies like hepatocyte transplantation and gene therapy offer future treatment possibilities.