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BMC Pediatrics
Published in: BMC Pediatrics 1/2020

Open Access 01-12-2020 | Case report

Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report

Authors: Anna Baghdasaryan, Lisa Ofner-Ziegenfuß, Carolin Lackner, Peter Fickert, Bernhard Resch, Nicholas Mark Morris, Andrea Deutschmann

Published in: BMC Pediatrics | Issue 1/2020

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Abstract

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.
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Metadata
Title
Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report
Authors
Anna Baghdasaryan
Lisa Ofner-Ziegenfuß
Carolin Lackner
Peter Fickert
Bernhard Resch
Nicholas Mark Morris
Andrea Deutschmann
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2020
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-020-02201-x

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