progressive familial intrahepatic cholestasis


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ABCB11

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.

cholestasis

, 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 ?
Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report.
A, Prominent bile ductular reaction in progressive familial intrahepatic cholestasis 3 (hematoxylin -eosin, original magnification X40).
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion.
[gamma]-Glutamyltranspeptidase levels, however, are usually elevated in biliary atresia, (70,71) and normal or low values should prompt evaluation of progressive familial intrahepatic cholestasis types I and II, as well as bile acid synthesis disorders.
Effects of bezafibrate on dyslipidemia with cholestasis in children with familial intrahepatic cholestasis-1 deficiency manifesting progressive familial intrahepatic cholestasis. Metabol Clin Exp 2009; 58: 48-54
Albireo Pharma announced the first patient has been enrolled in PEDFIC-1, a Phase 3 clinical trial of lead product candidate A4250, an ileal bile acid transporter inhibitor being studied for the treatment of patients with progressive familial intrahepatic cholestasis. PFIC is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease.
The proceeds will be utilised to advance a diversified range of gene therapy programmes aiming at rare, inherited metabolic diseases, including Wilson Disease, progressive familial intrahepatic cholestasis type two (PFIC2), progressive familial intrahepatic cholestasis type three (PFIC3) and citrullinemia type I.
Biopharmaceutical company Lumena Pharmaceuticals (Lumena), announced on Friday the dosing of the first patient in the INDIGO Phase 2 clinical trial of its lead drug candidate, LUM001, in children with progressive familial intrahepatic cholestasis (PFIC).
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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