Pediatr Gastroenterol Hepatol Nutr.  2012 Jun;15(2):122-126.

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

• Lee YS
• Kim MJ
• Ki CS
• Lee YM
• Lee Y
• Choe YH

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.

Keyword

Intrahepatic cholestasis; Single heterozygote; ATP8B1 gene

MeSH Terms

Alleles
Bile Ducts, Extrahepatic
Child
Cholestasis, Intrahepatic
Heterozygote
Humans
Jaundice, Obstructive
Korea
Wills

Figure

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  Fig. 1 Direct sequencing of PCR products amplified from exon 22 of the ATP8B1 gene. The patient displayed a heterozygote frame shift mutation by insertion of a nucleotide C at 2610_2611.

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  Fig. 2 Growth parameters with height and body weight. From the third attack (2007) to date, catch-up growth is not shown.

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  Fig. 3 The total bilirubin, direct bilirubin and GGT level changes over the patient's natural history. Between attacks, the patient was in complete remission with no cholestasis. GGT was normal during an episode with profound cholestasis.

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