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Caroli disease is a rare inherited disorder characterized by dilation of the intrahepatic bile ducts. There are two types of Caroli disease, the most common being the simple, or isolated case where the bile ducts are widened by ectasia. The second, more complex, cause is commonly known as Caroli Syndrome. This complex form is also linked with portal hypertension and congenital hepatic fibrosis. The differences between the causes of the two cases have not yet been discovered. Caroli disease is also associated with liver failure and polycystic kidney disease. The disease affects about 1 in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease. Caroli disease also is known as communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic biliary tree. Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many choledochal cyst derivatives. 〔 == Causes == The cause appears to be genetic; the simple form is an autosomal dominant trait while the complex form is an autosomal recessive trait.〔 Females are more prone to Caroli disease than males.〔(Kahn, Charles E, Jr. January 2003. Collaborative Hypertext of Radiology. Medical College of Wisconsin. )〕 Family history may include kidney and liver disease due to the link between Caroli Disease and ARPKD. PKHD1, the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome. PKHD1 is expressed primarily in the kidneys with lower levels in the liver, pancreas, and lungs, a pattern consistent with phenotype of the disease, which primarily affects the liver and kidneys.〔〔 The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Caroli disease」の詳細全文を読む スポンサード リンク
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