Other Names for this Disease
- Congenital polycystic dilatation of intrahepatic bile ducts
- Caroli disease isolated
- Cystic dilatation of the intrahepatic biliary tree
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 It may present with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. Age of onset is variable and mainly females are affected. The more common variant of this disease, Caroli syndrome, is characterized by dilations of the large bile duct in association with congenital hepatic fibrosis. Patients with Caroli syndrome may present with signs and symptoms of portal hypertension, bacterial cholangitis, hepatomegaly, splenomegaly, esophageal varices, and gastrointestinal hemorrhage. Caroli syndrome may be found in association with autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, medullary sponge kidney, and medullary cystic disease. Caroli disease may be sporadic or autosomal dominant, whereas Caroli syndrome is generally transmitted in an autosomal recessive manner.Caroli disease is a rare disorder characterized by abnormal widening of the large intrahepatic bile ducts.
Last updated: 5/19/2011
- Caroli disease. Orphanet. October 2006; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10715&Disease_Disease_Search_diseaseGroup=Caroli-disease&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Caroli-disease&title=Caroli-disease&search=Disease_. Accessed 5/18/2011.
- Caroli Disease. National Organization for Rare Disorders (NORD). 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract. Accessed 5/18/2011.
- Caroli Disease, Isolated. Online Mendelian Inheritance in Man (OMIM). 2011; http://www.ncbi.nlm.nih.gov/omim/600643. Accessed 5/18/2011.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Caroli disease. Click on the link to view a sample search on this topic.