Genetic cholestasis

Abbreviations

PFIC = Progressive familial intrahepatic cholestasis

BRIC = benign recurrent intrahepatic cholestasis

BSEP = bile salt export pump

OATP = organic anion transporting polypeptide

MRP = multidrug resistance related protein.

Bile salts are the predominant organic solutes in bile, and their vectorial secretion from liver to bile represents the major driving force for hepatic bile formation. Disturbances of bile salt transport across the basolateral and apical domains of the hepatocyte plasma membrane are important causes of acquired and genetic forms of cholestatic liver disease in humans. Defective bile salt secretion not only leads to progressive liver damage, but also metabolic derangements and malnutrition secondary to reduced intestinal absorption of lipids and fat-soluble vitamins.

References

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Correspondence