Abstract
BackgroundIdiopathic 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 presentationWe 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.ConclusionThis 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.
Highlights
Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion
This report demonstrates for the first time a close association between the prolonged cholestasis in infancy and impaired bile salt export pump (BSEP) expression on the hepatocyte canalicular membrane in a heterozygous carrier of newlyidentified ABCB11 variant
Mutations leading to complete loss of BSEP function cause progressive familial intrahepatic cholestasis type 2 (PFIC 2), a severe and progressive cholestatic liver disease, which may lead to development of hepatocellular carcinoma and need for liver transplantation [2]
Summary
Idiopathic or transient neonatal cholestasis (TNC) represents a group of cholestatic disorders with unidentified origin and remains a diagnosis of exclusion. 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 newlyidentified ABCB11 variant.
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