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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Baghdasaryan, A; Ofner-Ziegenfuß, L; Lackner, C; Fickert, P; Resch, B; Morris, NM; Deutschmann, A.
Histological demonstration of BSEP/ABCB11 inhibition in transient neonatal cholestasis: a case report.
BMC Pediatr. 2020; 20(1):340-340
Doi: 10.1186/s12887-020-02201-x
(- Case Report)
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- Leading authors Med Uni Graz
- Baghdasaryan Anna
- Co-authors Med Uni Graz
- Deutschmann Andrea
- Fickert Peter
- Lackner Karoline
- Morris Nicholas Mark
- Ofner-Ziegenfuss Lisa
- Resch Bernhard
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- Abstract:
- 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.
- Find related publications in this database (Keywords)
- BSEP deficiency
- Transient neonatal cholestasis