Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation.

ABSTRACT:

Aim

To investigate the relation of two different mutations to the outcome of partial external biliary diversion (PEBD) in severe bile salt export pump (BSEP) deficiency.

Methods

Mutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing. Native liver biopsies and transiently transfected human embryonic kidney (HEK) 293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization. Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatography-tandem mass spectrometry. Wild-type and mutant BSEP transport of [³H]-labeled taurocholate (TC) and taurochenodeoxycholate (TCDC

SUBMITTER: Ellinger P 

PROVIDER: S-EPMC5550778 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature