progressive familial intrahepatic cholestasis

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progressive familial intrahepatic cholestasis

an autosomal-recessive type of intrahepatic cholestasis of hepatocellular origin. Affected children often develop cirrhosis by age 10 and die during adolescence. At least three different genetic defects cause varieties of the disease. Also called Byler's disease.


A gene on chromosome 2q24 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance and is major canalicular bile salt export pump
Molecular pathology ABCB11 mutations cause a type of progressive
familial intrahepatic cholestasis of early (infancy) onset.


, cholestasia (ko?le-sta'sis) (ko?le-sta'zh(e-)a) [ chole- + stasis]
Arrest of the flow of bile. This may be due to intrahepatic causes, obstruction of the bile duct by gallstones, or any process that blocks the bile duct (e.g., cancer). cholestatic (ko?le-stat'ik), adjective

intrahepatic cholestasis of pregnancy

Abbreviation: ICP
A complication of approx. 1% of pregnancies in which elevated levels of pregnancy hormones cause obstruction to bile flow within the liver. Levels of bilirubin rise in the maternal circulation during the second and third trimesters of pregnancy, causing itching, bile staining of urine, and a lighter stool color than normal. ICP increases the risk of preterm delivery of the fetus and of bleeding disorders and loss of life of the fetus. Synonym: obstetric cholestasis

obstetric cholestasis

Intrahepatic cholestasis of pregnancy.

progressive familial intrahepatic cholestasis

Byler disease.
References in periodicals archive ?
Extensive canalicular cholestasis with formation of biliary rosettes in progressive familial intrahepatic cholestasis 1 (hematoxylineosin, original magnification X200).
A, Prominent bile ductular reaction in progressive familial intrahepatic cholestasis 3 (hematoxylin -eosin, original magnification X40).
Nontransplant surgical interventions in progressive familial intrahepatic cholestasis.
It was reported on Friday that the company has received orphan designation for LUM001 in four rare cholestatic liver diseases, which are Alagille syndrome, progressive familial intrahepatic cholestasis, primary biliary cirrhosis, and primary sclerosing cholangitis.

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