Paucity of Interlobular Bile Ducts in Multidrug-Resistant P-Glycoprotein 3 (MDR3) Deficiency.

Abstract

Multidrug-resistant P-glycoprotein 3 (MDR3) is a phospholipid translocator encoded by the ABCB4 gene located on chromosome 7. MDR3 mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte into bile. Severe MDR3 deficiency typically occurs during childhood with progressive cholestasis evolving to cirrhosis and liver failure, requiring liver transplantation. In this article, we report 2 pediatric cases of severe MDR3 deficiency with paucity of interlobular bile ducts. Both underwent living donor liver transplantation at our center for decompensated liver disease and portal hypertension. We diagnosed severe MDR3 deficiency in both the cases with negative MDR3 immunostaining in the explanted liver. Genetic studies revealed homozygous deletion single base pair deletion in exon 24 of the ABCB4 gene in the second child. The patients are on regular follow-up after liver transplant and are doing well. Our report highlights that cholangiopathy in MDR3 deficiency can lead to ductopenia in pediatric livers.

• Authors: Mukul Vij, Joseph Valamparampil, Naresh Shanmugum, Srinivas Mettu Reddy, Shaman Rajindrajith, Mohamed Rela
• Journal: International journal of surgical pathology (Int J Surg Pathol) Vol. 27 Issue 3 Pg. 343-347 (May 2019) ISSN: 1940-2465 [Electronic] United States
• PMID: 30222019 (Publication Type: Case Reports, Journal Article)

Chemical References

• ATP Binding Cassette Transporter, Subfamily B
• multidrug resistance protein 3

Topics

• ATP Binding Cassette Transporter, Subfamily B (deficiency, genetics)
• Alagille Syndrome (etiology, pathology, surgery)
• Bile Ducts, Intrahepatic (pathology)
• Child
• Child, Preschool
• Cholestasis, Intrahepatic (complications, genetics)
• Exons (genetics)
• Female
• Humans
• Hypertension, Portal (etiology, pathology, surgery)
• Liver Transplantation
• Male
• Sequence Deletion
• Treatment Outcome