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Congenital cholestatic syndromes: what happens when children grow up?
1Department of Gastroenterolgy, The Hospital for Sick Children, Toronto, Canada. simon.ling@sickkids.ca
Insights
Congenital cholestasis in adults presents a spectrum of liver disease severity, from cirrhosis to mild forms. Management involves addressing complications like portal hypertension and nutritional deficiencies, with liver transplantation as a key option.
Area of Science:
- Hepatology
- Pediatric Gastroenterology
- Internal Medicine
Background:
- Congenital cholestasis, though rare in adult practice, affects individuals surviving into adulthood with native livers.
- Common conditions include biliary atresia, Alagille syndrome, Caroli disease, and progressive familial intrahepatic cholestasis.
- Outcomes into adulthood reveal a wide spectrum of liver disease severity.
Purpose of the Study:
- To review the adult outcomes of four congenital cholestatic syndromes.
- To highlight common complications and indications for liver transplantation.
- To emphasize the need for improved understanding of biliary physiology.
Main Methods:
- Review of published data on adult outcomes of congenital cholestatic syndromes.
- Analysis of disease spectrum, complications, and treatment indications.
- Discussion of associated features and potential therapeutic advancements.
Main Results:
- Adults with biliary atresia often develop cirrhosis without transplantation.
- Mild or subclinical disease can occur, as seen in Alagille syndrome carriers.
- Portal hypertension and nutritional deficiencies are frequent complications.
Conclusions:
- Congenital cholestatic syndromes present diverse adult liver disease manifestations.
- Management requires addressing complications and considering liver transplantation.
- Further research into biliary physiology is crucial for improved therapies.
Abstract:
Although advances in the management of children with congenital cholestasis have enabled many to survive into adulthood with their native livers, even the most common of these conditions remains rare in adult hepatology practice. Among four congenital cholestatic syndromes (biliary atresia, Alagille syndrome, Caroli disease and congenital hepatic fibrosis, and progressive familial intrahepatic cholestasis), the published data on outcomes of the syndromes into adulthood suggest that a spectrum of severity of liver disease can be expected, from cirrhosis (almost universal in adults with biliary atresia who have not required liver transplantation) to mild and subclinical (eg, in the previously undiagnosed affected parent of an infant with Alagille syndrome). Complications associated with portal hypertension and nutritional deficiencies are common, and other associated features of the cholestatic syndrome may require appropriate attention, such as congenital heart disease in Alagille syndrome. Indications for liver transplantation include synthetic failure, progressive encephalopathy, intractable pruritus, recurrent biliary sepsis and recurrent complications of portal hypertension. Improved understanding of biliary physiology will hopefully translate into improved therapy for children and adults with cholestasis.
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