Progressive familial cholestasis (PFIC) 2 and benign recurrent intrahepatic cholestasis (BRIC) 2 are caused by mutations in the bile salt export pump (BSEP, ABCB11) gene; however, their prognosis differs. PFIC2 progresses to cirrhosis and requires liver transplantation, whereas BRIC2 is clinically benign. To identify the molecular mechanism(s) responsible for the phenotypic differences, eight P...

Obstructive jaundice in the first months of life is a fairly frequent phenomenon. Approximately twothirds of these infants have atresia of the hepatic ducts, and about two-thirds of the remaining can be classified as 'neonatal hepatitis', 'giant cell hepatitis', or 'thick bile syndrome' (Craig and Landing, 1952; de Toni and Romano, 1962; Gellis, 1961). 'Thick bile syndrome' is defined as 'neona...

Intrahepatic cholestasis in the form of paraneoplastic phenomena is an uncommon presentation of Hodgkin's lymphoma (HL). Herein we report the diagnosis of mixed type HL-related idiopathic intrahepatic cholestasis in a 73-year-old man presenting with jaundice, after the inguinal lymph node biopsy indicative of mixed cellular type HL and liver biopsy consistent with intrahepatic cholestasis, foll...

 Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATPdependent canalicular bile salt export pump (BSEP). Benign intrahepatic cholestasis (BRIC) identifies a group of diseases involving the sam...

BACKGROUND Mutations in ATP8B1 (FIC1) underlie cases of cholestatic disease, ranging from chronic and progressive (progressive familial intrahepatic cholestasis) to intermittent (benign recurrent intrahepatic cholestasis). The ATP8B1-deficient mouse serves as an animal model of human ATP8B1 deficiency. METHODOLOGY/PRINCIPAL FINDINGS We investigated the effect of genetic background on phenotyp...

Summerskill-Walshe-Tygstrup syndrome is a rare benign chronic liver disease characterized by recurring cholestasis with jaundice and severe pruritus. Due to insufficient conservative treatment, liver dialysis by Prometheus(®) was applied to a 45-year-old female patient with resistant pruritus. Initially, other possible liver diseases were excluded and the patient was treated symptomatically sin...

Intrahepatic cholestasis of pregnancy is the most common pregnancy-related liver disease that occurs during pregnancy. It causes mortality and morbidity. In this review, intrahepatic (ICP) discussed with current literature.

This article gives an overview of the molecular and cellular mechanisms of cholestasis. Topics reviewed include the pathomechanisms of hereditary cholestasis syndromes, such as progressive familial intrahepatic cholestasis, and hepatocellular transporter defects encountered in various acquired cholestatic disorders, such as intrahepatic cholestasis of pregnancy, drug-induced cholestasis, inflam...