Published online May 28, 2016. doi: 10.3748/wjg.v22.i20.4901
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.
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.