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

[benign recurrent intrahepatic cholestasis]

Cholestasis with normal gamma glutamyl transferase characterizes functional deficiencies in the gene ABCB 11 , 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 ABCB 11 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 ).

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Diseases presenting "suggesting that the mutation identified here may predispose patients to cholestasis through a delocalization process of bsep at the lobular level" symptom

benign recurrent intrahepatic cholestasis

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