Genotype correlates with the natural history of severe bile salt export pump deficiency

Date
2020
Author
Jacquemin, Emmanuel
Nicastro, Emanuele
Kelly, Deirdre A.
Nebbia, Gabriella
Arnell, Henrik
Fischler, Bjoern
Hulscher, Jan B. F.
Serranti, Daniele
Arikan, Cigdem
Polat, Esra
Debray, Dominique
Lacaille, Florence
Goncalves, Cristina
Hierro, Loreto
Bartolo, Gema Munoz
Mozer-Glassberg, Yael
Azaz, Amer
Brecelj, Jernej
Dezsofi, Antal
Calvo, Pier Luigi
Grabhorn, Enke
Sturm, Ekkehard
van der Woerd, Wendy J.
Kamath, Binita M.
Wang, Jian-She
Li, Liting
Durmaz, Oezlem
Onal, Zerrin
Bunt, Ton M. G.
Hansen, Bettina E.
Verkade, Henkjan J.
van Wessel, Daan B. E.
Thompson, Richard J.
Gonzales, Emmanuel
Jankowska, Irena
Sokal, Etienne
Grammatikopoulos, Tassos
Kadaristiana, Agustina
Spraul, Anne
Lipinski, Patryk
Czubkowski, Piotr
Rock, Nathalie
Shagrani, Mohammad
Broering, Dieter
Algoufi, Talal
Mazhar, Nejat
Metadata
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Abstract
Background & Aims: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes following surgical biliary diversion (SBD), remain elusive. We aimed to determine these associations by assembling the largest genetically defined cohort of patients with severe BSEP deficiency to date.
URI
http://hdl.handle.net/20.500.12627/4397
https://doi.org/10.1016/j.jhep.2020.02.007
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