title: Hepatocarcinogenesis in multidrug-resistant P-glycoprotein 3 deficiency.
abstract: MDR3 is a hepatocyte canalicular membrane protein encoded by the ABCB4 gene located on chromosome 7. MDR3 mediates the translocation of phosphatidylcholine into bile. Severe MDR 3 deficiency typically presents during early childhood with chronic cholestasis evolving to cirrhosis and portal hypertension, requiring liver transplantation. Herein, we report a case of severe MDR3 deficiency in a male child diagnosed with negative MDR3 immunostaining in hepatic canaliculi who underwent LDLT at our centre. We also describe single incidentally detected early well-differentiated HCC in the explant liver. The patient is on regular follow-up and is doing well. Our report shows that MDR3 deficiency may be a risk factor for the development of HCC.
authors.affiliation: Department of Pathology, Global health city, Chennai, Tamilnadu, India.
authors.forename: Mukul
authors.initials: M
authors.lastname: Vij
authors.affiliation: Institute of liver disease and transplantation, Global health city, Chennai, Tamilnadu, India.
authors.forename: Naresh P
authors.initials: NP
authors.lastname: Shanmugam
authors.affiliation: Institute of liver disease and transplantation, Global health city, Chennai, Tamilnadu, India.
authors.forename: Mettu Srinivas
authors.initials: MS
authors.lastname: Reddy
authors.affiliation: Institute of liver disease and transplantation, Global health city, Chennai, Tamilnadu, India.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Govil
authors.affiliation: Institute of liver disease and transplantation, Global health city, Chennai, Tamilnadu, India.|National Foundation for Liver Research, Chennai, Tamilnadu, India.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Rela
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency*; D002648:Child; D002779:Cholestasis / Q000150:complications; D002780:Cholestasis, Intrahepatic / Q000150:complications* / Q000188:drug therapy; D018432:Drug Resistance, Multiple; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications; D008113:Liver Neoplasms / Q000150:complications*; D016031:Liver Transplantation; D008297:Male; D012307:Risk Factors
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B
keywords: cirrhosis; hepatocellular carcinoma; immunostaining; multidrug resistance P-glycoprotein 3