Retrospective Study
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. May 28, 2016; 22(20): 4901-4907
Published online May 28, 2016. doi: 10.3748/wjg.v22.i20.4901
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis
Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Sung Sup Park
Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea
Sung Sup Park, Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul 110-799, South Korea
Ji Sook Park, Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Gyeongnam 660-702, South Korea
Author contributions: Ko JS and Moon JS designed the study; Park SS performed the genetic analyses; Park JS and Seo JK collected and analyzed the clinical data and wrote the paper.
Institutional review board statement: This study was carried out after obtaining the clearance from the ethical board of the hospital (GNUH 2015-09-004-001).
Conflict-of-interest statement: There was no conflict of interest among the authors.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Jeong Kee Seo, MD, PhD, Department of Pediatrics, Seoul National University College of Medicine, Daehak-ro, Jongno-gu, Seoul 110-799, South Korea.
Telephone: +82-2-20723778 Fax: +82-2-20723917
Received: January 19, 2016
Peer-review started: January 20, 2016
First decision: February 18, 2016
Revised: February 29, 2016
Accepted: March 14, 2016
Article in press: March 14, 2016
Published online: May 28, 2016

AIM: To investigate clinical profiles and mutations of ABCB11 in Koreans with progressive familial intrahepatic cholestasis 2 and review the differences between Koreans and others.

METHODS: Of 47 patients with neonatal cholestasis, five infants had chronic intrahepatic cholestasis with normal γ-glutamyl transpeptidase. Direct sequencing analyses of ABCB11, including exons and introns, were performed from peripheral blood.

RESULTS: Living donor-liver transplantation was performed in four patients because of rapidly progressive hepatic failure and hepatocellular carcinoma. Three missense mutations were found in two patients: compound heterozygous 677C>T (S226L)/3007G>A (G1003R) and heterozygous 2296G>A (G766R). The mutations were located near and in the transmembranous space.

CONCLUSION: Alterations in the transmembrane of the bile salt export pump in the Korean infants were different from those previously reported in Chinese, Japanease, Taiwanese, and European patients.

Keywords: Hepatocellular carcinoma, Progressive familial intrahepatic cholestasis, ABCB11, Bile salt export pump

Core tip: Reports of progressive familial intrahepatic cholestasis (PFIC) mutations in Asian countries have been less than those in Western countries because of time consuming and expensive diagnostic tools. Recently, reports on mutations of ABCB11 in Asian patients with PFIC have been increasing. In this study, the authors report mutations of ABCB11 in Korean infants with PFIC2 and compare Korean mutations with previously reported mutations.