Cholestasis in a patient with gallstones and a normal gamma-glutamyl transferase

Moghadamrad, Sheida; Montani, Matteo; Weimann, Rosemarie; De Gottardi, Andrea (2013). Cholestasis in a patient with gallstones and a normal gamma-glutamyl transferase. Hepatology, 57(6), pp. 2539-2541. Wiley Interscience 10.1002/hep.26344

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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).

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Gastro-intestinal, Liver and Lung Disorders (DMLL) > Clinic of Visceral Surgery and Medicine > Hepatology 04 Faculty of Medicine > Service Sector > Institute of Pathology
UniBE Contributor:	Moghadamrad, Sheida, Montani, Matteo, De Gottardi, Andrea
Subjects:	500 Science > 570 Life sciences; biology 600 Technology > 610 Medicine & health
ISSN:	0270-9139
Publisher:	Wiley Interscience
Language:	English
Submitter:	Andrea Arnold
Date Deposited:	03 Apr 2014 14:09
Last Modified:	05 Dec 2022 14:31
Publisher DOI:	10.1002/hep.26344
PubMed ID:	23446990
URI:	https://boris.unibe.ch/id/eprint/46322