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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, ABCB11), 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 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), 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 presenting "wide range" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenomyeloneuropathy
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • carcinoma of the gallbladder
  • congenital toxoplasmosis
  • cowden syndrome
  • cystinuria
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • fabry disease
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • legionellosis
  • neonatal adrenoleukodystrophy
  • oral submucous fibrosis
  • pendred syndrome
  • phenylketonuria
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • trochlear dysplasia
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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