The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.

[benign recurrent intrahepatic cholestasis]

The primary transporter responsible for bile salt secretion is the bile salt export pump (BSEP , ABCB 11 ), a member of the ATP-binding cassette (ABC ) superfamily , which is located at the bile canalicular apical domain of hepatocytes . In humans , BSEP deficiency results in several different genetic forms of cholestasis , which include progressive familial intrahepatic cholestasis type 2 (PFIC 2 ), benign recurrent intrahepatic cholestasis type 2 (BRIC 2 ), as well as other acquired forms of cholestasis such as drug-induced cholestasis (DIC ) and intrahepatic cholestasis of pregnancy (ICP ). Because bile salts play a pivotal role in a wide range of physiologic and pathophysiologic processes , regulation of BSEP expression has been a subject of intense research . The authors briefly describe the molecular characteristics of BSEP and then summarize what is known about its role in the pathogenesis of genetic and acquired cholestatic disorders , emphasizing experimental observations from animal models and cell culture in vitro systems .

Diseases
Validation

Diseases presenting "deficiency results" symptom

aromatase deficiency

benign recurrent intrahepatic cholestasis

hydrocephalus with stenosis of the aqueduct of sylvius

omenn syndrome

x-linked adrenoleukodystrophy

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