Sepsis as a cause of intrahepatic cholestasis

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

Class III multidrug resistance (MDR) P-glycoproteins (P-gp), mdr2 in mice and MDR3 in man, mediate the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte. Mice with a disrupted mdr2 gene completely lack biliary phospholipid excretion and develop progressive liver disease, characterized histologically by portal inflammation, proliferation of the bile duct epit...

Intrahepatic cholestasis of pregnancy.

Intrahepatic cholestasis of pregnancy is the most common pregnancy-specific liver disease that typically presents in the third trimester. The clinical features are maternal pruritus in the absence of a rash and deranged liver function tests, including raised serum bile acids. Intrahepatic cholestasis of pregnancy is associated with an increased risk of adverse perinatal outcomes, including spon...

Progressive Familial Intrahepatic Cholestasis

Severe familial intrahepatic cholestasis.

Odievre, M., Gautier, M., Hadchouel, M., and Alagille, D. (1973). Archives of Disease in Childhood, 48, 806. Severe familial intrahepatic cholestasis. Five cases of intrahepatic cholestasis are reported in 4 families in which 7 other children have had the same disease. Cholestasis, beginning before the age of one year, is notable for the absence of lipid retention, evolving by attacks brought o...

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal-recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and associated with mutations ...