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

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 pathogen...

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Bibliographic Details
Published in:BMC pediatrics 2020-07, Vol.20 (1), p.340-340, Article 340
Main Authors: Baghdasaryan, Anna, Ofner-Ziegenfuß, Lisa, Lackner, Carolin, Fickert, Peter, Resch, Bernhard, Morris, Nicholas Mark, Deutschmann, Andrea
Format: Article
Language:English
Subjects:
Age
Asphyxia neonatorum
ATP Binding Cassette Transporter, Subfamily B, Member 11 - genetics
Bile
Biopsy
BSEP deficiency
Case Report
Case reports
Cholestasis
Cholestasis - genetics
Diagnosis
Enzymes
Gallbladder diseases
Hepatocytes
Humans
Infant
Infant, Newborn
Laboratories
Liver
Liver Diseases
Mutation
Mutation, Missense
Neonatal care
Newborn babies
Newborn infants
Nutrition
Parenteral nutrition
Pathogenesis
Sepsis
Transient neonatal cholestasis
Ventilators
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Summary: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. 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. 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.
ISSN:1471-2431
1471-2431
DOI:10.1186/s12887-020-02201-x