Document Detail

Cholestasis in a patient with gallstones and a normal gamma-glutamyl transferase.
MedLine Citation:
PMID:  23446990     Owner:  NLM     Status:  MEDLINE    
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).
Sheida Moghadamrad; Matteo Montani; Rosemarie Weimann; Andrea De Gottardi
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hepatology (Baltimore, Md.)     Volume:  57     ISSN:  1527-3350     ISO Abbreviation:  Hepatology     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-06-13     Completed Date:  2013-08-16     Revised Date:  2014-05-29    
Medline Journal Info:
Nlm Unique ID:  8302946     Medline TA:  Hepatology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2539-41     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 American Association for the Study of Liver Diseases.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics*
Cholestasis, Intrahepatic / complications,  enzymology,  genetics*
Gallstones / complications
gamma-Glutamyltransferase / metabolism*
Reg. No./Substance:
0/ABCB11 protein, human; EC
Comment In:
Hepatology. 2014 May;59(5):2056   [PMID:  24115002 ]
Hepatology. 2014 May;59(5):2056-7   [PMID:  24108474 ]

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