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, Zerrin; 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., ...Daha Fazla

JOURNAL OF HEPATOLOGY, cilt.73, sa.1, ss.84-93, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 73 Sayı: 1
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.jhep.2020.02.007
Dergi Adı: JOURNAL OF HEPATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.84-93
Anahtar Kelimeler: 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
İstanbul Üniversitesi Adresli: Evet

Özet

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.