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KMID : 1038820190220020201
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Pediatric Gastroenterology, Hepatology & Nutrition
2019 Volume.22 No. 2 p.201 ~ p.206
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Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations
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Sohn Min-Ji
Woo Min-Hyung
Seong Moon-Woo
Park Sung-Sup
Kang Gyeong-Hoon
Moon Jin-Soo
Ko Jae-Sung
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Abstract
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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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KEYWORD
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Cholestasis, intrahepatic, ABCB11, Mutation, Bile salt export pump
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