View in EDS

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

Saved in:

Bibliographic Details
Title:	Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
Authors:	Estella M. Alonso, Huey-Ling Chen, Deirdre Kelly, Etienne Sokal, Philip J. Rosenthal, Daan B E van Wessel, Henkjan J. Verkade, Gema Muñoz Bartolo, Binita M. Kamath, Nejat Mazhar, Emanuele Nicastro, Talal Algoufi, Dorothee Krebs-Schmitt, Noemie Laverdure, Wendy L. van der Woerd, Jan B F Hulscher, Alexandre Fabre, Emmanuel Jacquemin, Yael Mozer-Glassberg, Benjamin L. Shneider, Mohammad Shagrani, Cristina Targa Ferreira, Emmanuel Gonzales, Yumirle P. Turmelle, Gabriella Nebbia, Amer Azaz, Seema Alam, Kathleen M. Loomes, Heng Wang, Elisa de Carvalho, Tassos Grammatikopoulos, Henrik Arnell, Kyung Mo Kim, Bettina E. Hansen, Nathalie Rock, Loreto Hierro, Dieter C. Broering, Jernej Brecelj, Frederick J. Suchy, Liting Li, Carolina Jimenez-Rivera, Felipe Ordonez, Agustina Kadaristiana, Valerie Sency, Patryk Lipiński, Jesus Quintero Bernabeu, Mara Cananzi, Antal Dezsőfi, Ozlem Durmaz, Florence Lacaille, Patrick J. McKiernan, Cigdem Arikan, Maria Rogalidou, Steffen Hartleif, Dominique Debray, Anne Spraul, Natural Course, Marianne Hørby Jørgensen, Simon Horslen, Piotr Czubkowski, Girish S. Rao, Björn Fischler, Pier Luigi Calvo, Jian-She Wang, Wikrom Karnsakul, Ronald J. Sokol, Daniele Serranti, Nanda Kerkar, Irena Jankowska, Cristina Goncalves, Ryan T. Fischer, Richard J. Thompson
Contributors:	Gall, Valérie, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), van Wessel, D. B. E., Thompson, R. J., Gonzales, E., Jankowska, I., Shneider, B. L., Sokal, E., Grammatikopoulos, T., Kadaristiana, A., Jacquemin, E., Spraul, A., Lipiński, P., Czubkowski, P., Rock, N., Shagrani, M., Broering, D., Algoufi, T., Mazhar, N., Nicastro, E., Kelly, D., Nebbia, G., Arnell, H., Fischler, B., Hulscher, J. B. F., Serranti, D., Debray, D., Lacaille, F., Goncalves, C., Hierro, L., Muñoz Bartolo, G., Mozer-Glassberg, Y., Azaz, A., Brecelj, J., Dezsőfi, A., Luigi Calvo, P., Krebs-Schmitt, D., Hartleif, S., van der Woerd, W. L., Wang, J. S., Li, L. T., Durmaz, Ö., Kerkar, N., Hørby Jørgensen, M., Fischer, R., Jimenez-Rivera, C., Alam, S., Cananzi, M., Laverdure, N., Ferreira, C. T., Ordonez, F., Wang, H., Sency, V., Kim, K. M., Chen, H. L., Carvalho, E., Fabre, A., Quintero Bernabeu, J., Alonso, E. M., Sokol, R. J., Suchy, F. J., Loomes, K. M., McKiernan, P. J., Rosenthal, P., Turmelle, Y., Rao, G. S., Horslen, S., Kamath, B. M., Rogalidou, M., Karnsakul, W. W., Hansen, B., Verkade, H. J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Pediatrics, School of Medicine
Source:	Hepatology Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid Hepatology, Vol. 74, no. 2, p. 892-906 (2021)
Publisher Information:	Ovid Technologies (Wolters Kluwer Health), 2021.
Publication Year:	2021
Subject Terms:	Male, 0301 basic medicine, Bile Ducts, Intrahepatic / surgery, Surgical biliary diversion, CHILDREN, [SDV.GEN] Life Sciences [q-bio]/Genetics, PFIC1, DISEASE, Cholestasis, Intrahepatic / genetics, Prospective Studies, Child, Adenosine triphosphatases, Cholestasis, Intrahepatic / surgery, ATP8B1 GENE, Adenosine Triphosphatases, Cholestasis, Intrahepatic / blood, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Intrahepatic cholestasis, Cholestasis, Intrahepatic / mortality, Prognosis, Risk Assessment / statistics & numerical data, Intrahepatic bile ducts, 3. Good health, [SDV] Life Sciences [q-bio], Treatment Outcome, Codon, Nonsense, Risk Assessment / methods, Child, Preschool, Female, EXPRESSION, FIC1 deficiency, Adolescent, Cholestasis, Intrahepatic, Risk Assessment, Bile Acids and Salts, Bile Acids and Salts / blood, Young Adult, 03 medical and health sciences, FAMILIAL INTRAHEPATIC CHOLESTASIS, ATP8B1, ABCB11 MUTATIONS, Humans, Adenosine Triphosphatases / genetics, Serum bile acids, TYPE-1, Retrospective Studies, Liver transplantation, Hepatology, Infant, Original Articles, Survival Analysis, Liver Transplantation / statistics & numerical data, Liver Transplantation, SALT EXPORT PUMP, Bile Ducts, Intrahepatic, Adenosine Triphosphatases / deficiency, Follow-Up Studies
Description:	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%, 41%, and 59%, respectively; P = 0.12), despite FIC1‐C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs P = 0.03). SBD decreased sBAs (230 [125‐282] to 74 [11‐177] μmol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28‐1.03, P = 0.06) and post‐SBD sBA concentrations P = 0.05) tended to be associated with improved NLS. Conclusions Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long‐term NLS.
Document Type:	Article Other literature type
File Description:	application/pdf; text/academic publication
Language:	English
ISSN:	1527-3350 0270-9139
DOI:	10.1002/hep.31787
Access URL:	https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/hep.31787 https://pubmed.ncbi.nlm.nih.gov/33666275 https://hdl.handle.net/20.500.12530/67893 https://amu.hal.science/hal-03663238v1 https://doi.org/10.1002/hep.31787 https://research.rug.nl/en/publications/b4638719-4d44-4316-b2ec-3f57c36ffddb https://hdl.handle.net/11370/b4638719-4d44-4316-b2ec-3f57c36ffddb https://doi.org/10.1002/hep.31787 https://pubmed.ncbi.nlm.nih.gov/33666275/ https://scholarlyexchange.childrensmercy.org/papers/4007/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8456904 https://scholarlyexchange.childrensmercy.org/cgi/viewcontent.cgi?article=4998&context=papers https://avesis.istanbul.edu.tr/yayin/fb77b578-8e9f-45d3-beee-f7a6a2641062/impact-of-genotype-serum-bile-acids-and-surgical-biliary-diversion-on-native-liver-survival-in-fic1-deficiency https://www.narcis.nl/publication/RecordID/oai%3Apure.rug.nl%3Apublications%2Fb4638719-4d44-4316-b2ec-3f57c36ffddb https://archive-ouverte.unige.ch/unige:183839 https://doi.org/10.1002/hep.31787 https://hdl.handle.net/2078.1/244379 http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9473
Rights:	CC BY NC ND URL: http://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
Accession Number:	edsair.doi.dedup.....7ecc4ae32d84b425ddef55c91928639e
Database:	OpenAIRE

View record at OpenAIRE

Full Text Finder

Nájsť tento článok vo Web of Science

Description
Abstract:	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%, 41%, and 59%, respectively; P = 0.12), despite FIC1‐C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs P = 0.03). SBD decreased sBAs (230 [125‐282] to 74 [11‐177] μmol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28‐1.03, P = 0.06) and post‐SBD sBA concentrations P = 0.05) tended to be associated with improved NLS. Conclusions Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long‐term NLS.
ISSN:	15273350 02709139
DOI:	10.1002/hep.31787