Hepatocarcinogenesis in multidrug‐resistant P‐glycoprotein 3 deficiency

• Published in: Pediatric transplantation Vol. 21; no. 3; pp. np - n/a
• Main Authors: Vij, Mukul, Shanmugam, Naresh P., Reddy, Mettu Srinivas, Govil, Sanjay, Rela, Mohamed
• Format: Journal Article
• Language: English
• Published: Denmark Wiley Subscription Services, Inc 01.05.2017
• Subjects: ATP Binding Cassette Transporter, Sub-Family B - deficiency; Bile; Case reports; Child; Children; Cholestasis; Cholestasis - complications; Cholestasis, Intrahepatic - complications; Cholestasis, Intrahepatic - drug therapy; Chromosome 7; Cirrhosis; Drug Resistance, Multiple; hepatocellular carcinoma; Humans; Hypertension, Portal - complications; immunostaining; Lecithin; Liver; Liver - pathology; Liver cirrhosis; Liver Cirrhosis - complications; Liver Neoplasms - complications; Liver Transplantation; Male; Membrane proteins; Multidrug resistance; multidrug resistance P‐glycoprotein 3; Multidrug resistant organisms; P-Glycoprotein; Phosphatidylcholine; Risk Factors; Transplantation; immunostaining; multidrug resistance P-glycoprotein 3; cirrhosis; hepatocellular carcinoma
• ISSN: 1397-3142; 1399-3046
• DOI: 10.1111/petr.12889

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.