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Hepatocarcinogenesis in multidrug-resistant P-glycoprotein 3 deficiency
Mukul Vij1, Naresh P Shanmugam2, Mettu Srinivas Reddy2
1Department of Pathology, Global health city, Chennai, Tamilnadu, India.
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.
Insights
Severe MDR3 deficiency, a condition affecting bile transport, can lead to serious liver disease in children. This case suggests a potential link between MDR3 deficiency and the development of hepatocellular carcinoma (HCC).
Area of Science:
- Hepatology
- Genetics
- Oncology
Background:
- Multidrug resistance 3 (MDR3) is a canalicular membrane protein crucial for phosphatidylcholine transport into bile.
- Deficiency in MDR3 function, encoded by the ABCB4 gene, leads to severe chronic cholestasis in early childhood, often progressing to cirrhosis and portal hypertension.
- Liver transplantation is frequently required for patients with severe MDR3 deficiency.
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