Hepatobiliary transport systems mediate hepatic uptake and biliary excretion of bile acids, bilirubin and other biliary constituents. Hereditary or acquired defects of these transporters may cause or maintain cholestasis and jaundice under various clinical conditions including progressive familial intrahepatic cholestasis (PFIC) 1-3 or its milder forms, benign recurrent intrahepatic cholestasis...

BACKGROUND Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.7% of pregnancies in the UK and is associated with prematurity, fetal distress, and intrauterine death. Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholesta...

Objectives: The aim of this study is to reveal the diagnostic yield progressive familial intrahepatic cholestasis (PFIC) gene panel that we have used in diagnosis patient group, which accounts for approximately 10% cholestatic liver disease, and report clinical findings our patients with detected variants. Methods: In study, retrospectively evaluated results molecular genetic analysis pediatric...

Hepatocyte-specific magnetic resonance imaging (MRI) contrast agents are commonly used to depict anatomic hepatobiliary lesions and are also useful in characterizing the kinetics of hepatocyte uptake and excretion. We report a case of a 13-year old female with progressive familial intrahepatic cholestasis (PFIC) type 1 who demonstrated decreased uptake and excretion of gadoxetate disodium contr...

Odevixibat (Bylvay™; Bylvay®) has been approved for progressive familial intrahepatic cholestasis (PFIC) in patients aged ≥ 3 months the USA and those 6 EU UK. In pivotal double-blind placebo-controlled phase PEDFIC 1 study, odevixibat 40 or 120 μg/kg once daily significantly reduced serum bile acids pruritus. also improved growth, sleep quality of life parameters compared with placebo PFIC. Th...