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Progressive familial intrahepatic cholestasis
Pronunciation
Definition 1
A rare, inherited disorder marked by a buildup in the liver of bile (fluid that helps digest fat). This can lead to liver disease and liver failure. It may also increase the risk of liver cancer. Progressive familial intrahepatic cholestasis is caused by mutations (changes) in certain genes that make proteins needed to help the liver work the way it should. It usually occurs in infants and children. Also called PFIC. (NCI Dictionary)
Definition 2
A genetic syndrome affecting infants and children. It is characterized by chronic intrahepatic cholestasis usually progressing to cirrhosis within the first ten years of life. (NCI Thesaurus)
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