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It is possible that the main title of the report Caroli Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Caroli disease is a rare inherited disorder characterized by abnormal widening (dilatation) of the ducts that carry bile from the liver (intrahepatic bile ducts). According to the medical literature, there are two forms of Caroli disease. In most cases, the isolated or simple form is characterized by widening of the bile ducts (dilatation or ectasia). A second, more complex form is often called Caroli syndrome. The complex form or syndrome is associated with the presence of bands of fibrous tissue in the liver (congenital hepatic fibrosis) and high blood pressure in the portal artery (portal hypertension. This form of Caroli disease is also often associated, in ways that are not well understood, with polycystic kidney disease, and, in severe cases, liver failure.
The genetics of Caroli disease are complex as well. The isolated or simple form is transmitted as an autosomal dominant trait, while the complex form associated with polycystic kidney disease is transmitted as an autosomal recessive trait.
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 3/24/2008
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