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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
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- 저자정보
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- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제22권 제2호
- 발행연도
- 2019.1
- 수록면
- 201 - 206 (6page)
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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 (20)
참고문헌 신청
Chawla N / 2008 / Benign recurrent intrahepatic cholestasis (BRIC) – a case report and review of literature / Internet J Pathol 9
Geethalakshmi S / 2014 / Benign recurrent intrahepatic cholestasis : a rare case report / Int J Sci Study 2:222~224
van Mil SW / 2004 / Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 / Gastroenterology 127:379~384
Kagawa T / 2008 / Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells / Am J Physiol Gastrointest Liver Physiol 294:G58~67
Adzhubei I / 2013 / Predicting functional effect of human missense mutations using PolyPhen-2. Current protocols in human genetics / John Wiley & Sons, Inc
Geethalakshmi S / 2014 / Benign recurrent intrahepatic cholestasis : a rare case report / Int J Sci Study 2:222~224
van Mil SW / 2004 / Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 / Gastroenterology 127:379~384
Kagawa T / 2008 / Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells / Am J Physiol Gastrointest Liver Physiol 294:G58~67
Adzhubei I / 2013 / Predicting functional effect of human missense mutations using PolyPhen-2. Current protocols in human genetics / John Wiley & Sons, Inc
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