title: Cholestasis in a patient with gallstones and a normal gamma-glutamyl transferase.
abstract: Cholestasis with normal gamma glutamyl transferase characterizes functional deficiencies in the gene ABCB11, which encodes the bile salt export pump (BSEP), a liver-specific adenosine triphosphate (ATP)-binding cassette transporter. Here we report the case of a patient presenting with features of benign recurrent intrahepatic cholestasis associated with a heterozygous mutation in the ABCB11 gene. Immunohistochemistry showed a gradual decrease of BSEP from zone 1 to zone 3 of the liver lobule, suggesting that the mutation identified here may predispose patients to cholestasis through a delocalization process of BSEP at the lobular level. (HEPATOLOGY 2013;57:2539-2541).
authors: Department of Clinical Research, Hepatology Study Group, University of Berne, Switzerland.
authors: Sheida
authors: S
authors: Moghadamrad
authors: Matteo
authors: M
authors: Montani
authors: Rosemarie
authors: R
authors: Weimann
authors: Andrea
authors: A
authors: De Gottardi
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D002780:Cholestasis, Intrahepatic / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D005260:Female; D042882:Gallstones / Q000150:complications; D006801:Humans; D005723:gamma-Glutamyltransferase / Q000378:metabolism*
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D005723:gamma-Glutamyltransferase