Pediatric Gastroenterology, Hepatology & Nutrition  2012;15(2):122-126

doi:10.5223/pghn.2012.15.2.122

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

Yun Seok LEE 1 ; Mi Jin KIM ; Chang Seok KI ; Yoo Min LEE ; Yoon LEE ; Yon Ho CHOE

Affiliations

+expand

Keywords

Intrahepatic cholestasis; Single heterozygote; ATP8B1 gene

Country

Republic of Korea

Language

English

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.