Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene.
10.5223/pghn.2012.15.2.122
- Author:
Yun Seok LEE
1
;
Mi Jin KIM
;
Chang Seok KI
;
Yoo Min LEE
;
Yoon LEE
;
Yon Ho CHOE
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. i101016@skku.edu
- Publication Type:Case Report
- Keywords:
Intrahepatic cholestasis;
Single heterozygote;
ATP8B1 gene
- MeSH:
Alleles;
Bile Ducts, Extrahepatic;
Child;
Cholestasis, Intrahepatic;
Heterozygote;
Humans;
Jaundice, Obstructive;
Korea;
Wills
- From:Pediatric Gastroenterology, Hepatology & Nutrition
2012;15(2):122-126
- CountryRepublic 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.
