intrahepatic cholestasis

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