Intrahepatic cholestasis, or intrahepatic impairment of bile flow, is an important manifestation of inherited and acquired liver disease.
Etiology
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.
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
- hepatic lesions
- hepatic lesional syndromes