Open AccessBenign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India
Author(s) -
K Kalaranjini,
Jinu Abraham Glaxon,
Senthilvel Vasudevan,
M L Arunkumar
Publication year - 2021
Publication title -
indian journal of pathology and microbiology/indian journal of pathology and microbiology
Language(s) - English
Resource type - Journals
eISSN - 0974-5130
pISSN - 0377-4929
DOI - 10.4103/ijpm.ijpm_254_20
Subject(s) - cholestasis , medicine , jaundice , liver biopsy , histopathology , gastroenterology , hepatocellular carcinoma , pediatrics , neonatal cholestasis , biopsy , pathology , biliary atresia , transplantation , liver transplantation
ABCB11 deficiency, formerly benign recurrent intrahepatic cholestasis (BRIC) is a very rare hereditary disorder characterized by the recurrent and intermittent episodes of cholestasis, jaundice, and pruritus. We report the case of a 12-year-old boy presenting with recurrent episodes of jaundice and severe pruritis since childhood. An extensive workup was done to rule out all the possible etiologies. Liver biopsy was done and histopathology was consistent with intrahepatic cholestasis. Immunohistochemistry, enzyme studies, and genetic testing confirmed the diagnosis. The patient was treated with Ursodeoxycholicacid and is on regular follow-up. We report this case due to the rarity of the disease in South India and to highlight the importance of genetic testing, which is the gold standard for diagnosis as well as for the classification of the disease. These patients should be under regular follow-up as those with fibrosis progression are at a risk for cholangiocarcinoma and hepatocellular carcinoma.