Pediatr Gastroenterol Hepatol Nutr.  2019 Mar;22(2):201-206. 10.5223/pghn.2019.22.2.201.

Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

Affiliations
  • 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. kojs@snu.ac.kr
  • 2Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
  • 3Department 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.

Keyword

Cholestasis, intrahepatic; ABCB11; Mutation; Bile salt export pump

MeSH Terms

Bile Ducts
Biopsy
Child
Cholestasis
Cholestasis, Intrahepatic*
Female
Fibrosis
Giant Cells
Hepatitis
Humans
Jaundice
Liver
Liver Function Tests
Pruritus
Rifampin
Siblings*
Steatorrhea
Rifampin
Full Text Links
  • PGHN
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
    DB Error: unknown error