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http://dx.doi.org/10.5223/kjpgn.2012.15.2.122

Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene  

Lee, Yun Seok (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Kim, Mi Jin (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Ki, Chang Seok (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Lee, Yoo Min (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Lee, Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Choe, Yon Ho (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Pediatric Gastroenterology, Hepatology & Nutrition / v.15, no.2, 2012 , pp. 122-126 More about this Journal
Abstract
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.
Keywords
Intrahepatic cholestasis; Single heterozygote; ATP8B1 gene;
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