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Papers of the Week

2020 Jun

ACG Case Rep J



Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2.


Arthur Lorio E, Valadez D, Alkhouri N, Loo N
ACG Case Rep J. 2020 Jun; 7(6):e00412.
PMID: 32647738.


Benign recurrent intrahepatic cholestasis represents a rare class of autosomal recessive chronic cholestasis disorders, usually presenting with recurrent episodes of intense pruritus and jaundice. We report a 27-year-old woman presenting with benign recurrent intrahepatic cholestasis type 2 due to heterozygosity in Interestingly, she was also found to be heterozygous in cystic fibrosis transmembrane conductance regulator, , and (), which may explain the severe nature of her disease expression because heterozygosity in each of these genes has been associated with cholestasis. Finally, she exhibited a response to steroids that may have implications for future treatment of bile salt export pump-related diseases.