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SHR Neuro Krebs Kardio Lipid

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. (- Case Report) [OPEN ACCESS]
PubMed PUBMED Central FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Baghdasaryan Anna
Deutschmann Andrea
Fickert Peter
Lackner Karoline
Morris Nicholas
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.

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