Pediatric Gastroenterology, Hepatology & Nutrition

  • 제22권2호
  • /
  • Pages.201-206
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  • 2019
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  • 2234-8646(pISSN)
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  • 2234-8840(eISSN)
대한소아소화기영양학회 (The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition)
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Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

  • Sohn, Min Ji (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Woo, Min Hyung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Seong, Moon-Woo (Department of Laboratory Medicine, Seoul National University College of Medicine) ;
  • Park, Sung Sup (Department of Laboratory Medicine, Seoul National University College of Medicine) ;
  • Kang, Gyeong Hoon (Department of Pathology, Seoul National University College of Medicine) ;
  • Moon, Jin Soo (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jae Sung (Department of Pediatrics, Seoul National University College of Medicine)
  • 투고 : 2018.01.19
  • 심사 : 2018.06.27
  • 발행 : 2019.03.15
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초록

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.

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참고문헌

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피인용 문헌

  1. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin vol.66, pp.2, 2019, https://doi.org/10.1038/s10038-020-0811-1
  2. Rodent models of cholestatic liver disease: A practical guide for translational research vol.41, pp.4, 2019, https://doi.org/10.1111/liv.14800
  3. Efficacy and safety of rifampicin in patients with persistent hepatocellular secretory failure vol.36, pp.11, 2019, https://doi.org/10.1111/jgh.15629