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Pediatr Gastroenterol Hepatol Nutr. 2019 Mar;22(2):201-206. English. Case Report. https://doi.org/10.5223/pghn.2019.22.2.201
Sohn MJ , Woo MH , Seong MW , Park SS , Kang GH , Moon JS , Ko JS .
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. kojs@snu.ac.kr
Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
Abstract

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.

Copyright © 2019. Korean Association of Medical Journal Editors.