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intrahepatic cholestasis

Wednesday 4 June 2003

Intrahepatic cholestasis, or intrahepatic impairment of bile flow, is an important manifestation of inherited and acquired liver disease.

Etiology of bland intrahepatic cholestasis

- drugs (e.g. contraceptive steroids)
- sepsis
- benign recurrent intrahepatic cholestasis
- cholestasis of pregnancy
- post-transplant bile-flow impairment or rejection
- lymphomas

- anomalies of intrahepatic bile ducts

  • anomalies of interlobular bile ducts

- lobular cholestasis
- monogenic diseases

  • ATP8B1 (FIC1), ABCB11 (BSEP), and ABCB4 (MDR3) are disrupted in forms of progressive familial intrahepatic cholestasis (PFIC) and related disorders.
  • Mutations in BAAT, TJP2 (ZO-2), and EPHX1 have been identified in patients with hypercholanemia.
  • A CLDN1 mutation was recently reported in patients with ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC).
  • North American Indian childhood cirrhosis (NAIC) is associated with a missense mutation in CIRH1A.

Nota bene: Alagille syndrome patients carry mutations in JAG1, and mutations in VPS33B have been identified in patients with arthrogryposis, renal dysfunction and cholestasis syndrome (ARC).

See also

- Liver

  • hepatic lesions
  • hepatic lesional syndromes
    • Cholestasis