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

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...

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Main Authors: Anna Baghdasaryan (Author), Lisa Ofner-Ziegenfuß (Author), Carolin Lackner (Author), Peter Fickert (Author), Bernhard Resch (Author), Nicholas Mark Morris (Author), Andrea Deutschmann (Author)
Format: Book
Published: BMC, 2020-07-01T00:00:00Z.
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Summary: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.
Item Description:10.1186/s12887-020-02201-x
1471-2431