Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
Journal
Hepatology
Journal Volume
74
Journal Issue
2
Pages
892
Date Issued
2021
Author(s)
van Wessel, Daan B E
Thompson, Richard J
Gonzales, Emmanuel
Jankowska, Irena
Shneider, Benjamin L
Sokal, Etienne
Grammatikopoulos, Tassos
Kadaristiana, Agustina
Jacquemin, Emmanuel
Spraul, Anne
Lipiński, Patryk
Czubkowski, Piotr
Rock, Nathalie
Shagrani, Mohammad
Broering, Dieter
Algoufi, Talal
Mazhar, Nejat
Nicastro, Emanuele
Kelly, Deirdre
Nebbia, Gabriella
Arnell, Henrik
Fischler, Björn
Hulscher, Jan B F
Serranti, Daniele
Arikan, Cigdem
Debray, Dominique
Lacaille, Florence
Goncalves, Cristina
Hierro, Loreto
Muñoz Bartolo, Gema
Mozer-Glassberg, Yael
Azaz, Amer
Brecelj, Jernej
Dezsőfi, Antal
Luigi Calvo, Pier
Krebs-Schmitt, Dorothee
Hartleif, Steffen
van der Woerd, Wendy L
Wang, Jian-She
Li, Li-Ting
Durmaz, Özlem
Kerkar, Nanda
Hørby Jørgensen, Marianne
Fischer, Ryan
Jimenez-Rivera, Carolina
Alam, Seema
Cananzi, Mara
Laverdure, Noémie
Targa Ferreira, Cristina
Ordonez, Felipe
Wang, Heng
Sency, Valerie
Mo Kim, Kyung
Carvalho, Elisa
Fabre, Alexandre
Quintero Bernabeu, Jesus
Alonso, Estella M
Sokol, Ronald J
Suchy, Frederick J
Loomes, Kathleen M
McKiernan, Patrick J
Rosenthal, Philip
Turmelle, Yumirle
Rao, Girish S
Horslen, Simon
Kamath, Binita M
Rogalidou, Maria
Karnsakul, Wikrom W
Hansen, Bettina
Verkade, Henkjan J
Abstract
Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.
Subjects
FAMILIAL INTRAHEPATIC CHOLESTASIS; SALT EXPORT PUMP; ABCB11 MUTATIONS; ATP8B1 GENE; TYPE-1; PFIC1; EXPRESSION; CHILDREN; DISEASE
SDGs
Other Subjects
adult; adulthood; article; bile acid blood level; controlled study; female; frameshift mutation; gene deletion; genotype; heterozygosity; history; homozygosity; human; human tissue; liver; major clinical study; male; multicenter study; nonsense mutation; prognosis; prospective study; retrospective study; survival analysis; adolescent; blood; child; clinical trial; follow up; genetics; infant; intrahepatic bile duct; intrahepatic cholestasis; liver transplantation; mortality; preschool child; procedures; risk assessment; stop codon; treatment outcome; young adult; adenosine triphosphatase; ATP8B1 protein, human; bile acid; Adenosine Triphosphatases; Adolescent; Bile Acids and Salts; Bile Ducts, Intrahepatic; Child; Child, Preschool; Cholestasis, Intrahepatic; Codon, Nonsense; Female; Follow-Up Studies; Humans; Infant; Liver Transplantation; Male; Prognosis; Prospective Studies; Retrospective Studies; Risk Assessment; Survival Analysis; Treatment Outcome; Young Adult
Publisher
WILEY
Type
journal article