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Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency by Daan B.E. van Wessel; Richard J. Thompson; Emmanuel Gonzales; Irena Jankowska; Benjamin L. Shneider; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipiński; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Björn Fischler; Jan B.F. Hulscher; Daniele Serranti; Cigdem Arikan; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema Muñoz Bartolo; Yael Mozer‐Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsőfi; Pier Luigi Calvo; Dorothee Krebs‐Schmitt; Steffen Hartleif; Wendy L. van der Woerd; Jian‐She Wang; Li‐ting Li; Özlem Durmaz; Nanda Kerkar; Marianne Hørby Jørgensen; Ryan Fischer; Carolina Jimenez‐Rivera; Seema Alam; Mara Cananzi; Noémie Laverdure; Cristina Targa Ferreira; Felipe Ordonez; Heng Wang; Valerie Sency; Kyung Mo Kim; Huey‐Ling Chen; Elisa Carvalho; Alexandre Fabre; Jesus Quintero Bernabeu; Estella M. Alonso; Ronald J. Sokol; Frederick J. Suchy; Kathleen M. Loomes; Patrick J. McKiernan; Philip Rosenthal; Yumirle Turmelle; Girish S. Rao; Simon Horslen; Binita M. Kamath; Maria Rogalidou; Wikrom W. Karnsakul; Bettina Hansen; Henkjan J. Verkade; on behalf of Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium is a Medicine article available to read on EtoBox.

What is Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency about?

## Background and Aims 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. ## Approach and Results This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic __ATP8B1__ variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1‐A (n = 67; no PPTMs), FIC1‐B (n = 29; one PPTM), or FIC1‐C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1‐A, FIC1‐B, and FIC1‐C (% NLS at age 10 years: 67%

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Author

Daan B.E. van Wessel; Richard J. Thompson; Emmanuel Gonzales; Irena Jankowska; Benjamin L. Shneider; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipiński; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Björn Fischler; Jan B.F. Hulscher; Daniele Serranti; Cigdem Arikan; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema Muñoz Bartolo; Yael Mozer‐Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsőfi; Pier Luigi Calvo; Dorothee Krebs‐Schmitt; Steffen Hartleif; Wendy L. van der Woerd; Jian‐She Wang; Li‐ting Li; Özlem Durmaz; Nanda Kerkar; Marianne Hørby Jørgensen; Ryan Fischer; Carolina Jimenez‐Rivera; Seema Alam; Mara Cananzi; Noémie Laverdure; Cristina Targa Ferreira; Felipe Ordonez; Heng Wang; Valerie Sency; Kyung Mo Kim; Huey‐Ling Chen; Elisa Carvalho; Alexandre Fabre; Jesus Quintero Bernabeu; Estella M. Alonso; Ronald J. Sokol; Frederick J. Suchy; Kathleen M. Loomes; Patrick J. McKiernan; Philip Rosenthal; Yumirle Turmelle; Girish S. Rao; Simon Horslen; Binita M. Kamath; Maria Rogalidou; Wikrom W. Karnsakul; Bettina Hansen; Henkjan J. Verkade; on behalf of Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium

Publisher

Ovid Technologies (Wolters Kluwer Health)

Published

2021

Language

EN

Field

Medicine (Health Sciences)