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Updated: Dec 15, 2025
Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report
Anna Baghdasaryan1, Lisa Ofner-Ziegenfuß2, Carolin Lackner3
1Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Auenbruggerplatz 34/2, 8036, Graz, Austria. a.baghdasaryan@medunigraz.at.
Background:
Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. Dysfunction of hepatobiliary transporters mediating excretion of biliary constituents from hepatocytes may play a central role in the pathogenesis of cholestasis. Despite variants of bile salt (BS) export pump (BSEP/ABCB11) have already been described in TNC, the pathogenic role of BSEP dysfunction in TNC remained so far elusive.
Case Presentation:
We report on a newly-identified heterozygous ABCB11 missense variant (c.1345G > A, p.Glu449Lys) which was associated with prolonged cholestasis in a term infant after a complicated neonatal period. Moreover, we show for the first time almost completely abolished BSEP expression on the hepatocellular membrane in TNC.
Conclusion:
This report demonstrates for the first time a close association between the prolonged cholestasis in infancy and impaired BSEP expression on the hepatocyte canalicular membrane in a heterozygous carrier of newly-identified ABCB11 variant.
