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

van Wessel, Daan; Thompson, Richard; Gonzales, Emmanuel; Jankowska, Irena; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Algoufi, Talal; Mazhar, Nejat; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Bjoern; Hulscher, Jan; Serranti, Daniele; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsofi, Antal; Calvo, Pier; Grabhorn, Enke; Sturm, Ekkehard; van der Woerd, Wendy; Kamath, Binita; Wang, Jian-She; Li, Liting; Durmaz, Oezlem; Onal, ZERRİN; Bunt, Ton; Hansen, Bettina; Verkade, Henkjan

doi:10.1016/j.jhep.2020.02.007

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

van Wessel D. B. E., Thompson R. J., Gonzales E., Jankowska I., Sokal E., Grammatikopoulos T., ...More

JOURNAL OF HEPATOLOGY, vol.73, no.1, pp.84-93, 2020 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 73 Issue: 1
Publication Date: 2020
Doi Number: 10.1016/j.jhep.2020.02.007
Journal Name: JOURNAL OF HEPATOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
Page Numbers: pp.84-93
Keywords: Severe BSEP deficiency, PFIC2, ABCB11, Natural history, Surgical biliary diversion, FAMILIAL INTRAHEPATIC CHOLESTASIS, EXTERNAL BILIARY DIVERSION, SURGICAL-MANAGEMENT, ABCB11 MUTATIONS, CHILDREN, LIVER, TYPE-2, BSEP, EXPRESSION, OUTCOMES
Istanbul University Affiliated: Yes

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.