Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.

ABSTRACT:

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 spa

SUBMITTER: Park JS 

PROVIDER: S-EPMC4873882 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature