Open AccessCholestasis in Benign Recurrent Intrahepatic Cholestasis 2
Author(s) -
Eric Lorio,
David Valadez,
Naim Alkhouri,
Nicole Loo
Publication year - 2020
Publication title -
acg case reports journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.112
H-Index - 4
ISSN - 2326-3253
DOI - 10.14309/crj.0000000000000412
Subject(s) - cholestasis , medicine , progressive familial intrahepatic cholestasis , gastroenterology , bile salt export pump , cystic fibrosis transmembrane conductance regulator , cystic fibrosis , gene , biology , genetics , transporter , transplantation , liver transplantation
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 ABCB11. Interestingly, she was also found to be heterozygous in cystic fibrosis transmembrane conductance regulator, NPHP4 , and A1ATD ( SERPINA1 ), 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.