Caroli's disease causes: Difference between revisions
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Revision as of 16:02, 19 November 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Causes
The cause appears to be genetic; the simple form is an autosomal dominant trait while the complex form is an autosomal recessive trait.[1] 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.[1] The genetic basis for the difference between Caroli disease and Caroli syndrome has not been defined.