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dc.contributor.authorLipinski, Patryk
dc.contributor.authorAzaz, Amer
dc.contributor.authorBrecelj, Jernej
dc.contributor.authorDersofi, Antal
dc.contributor.authorCalvo, Pier Luigi
dc.contributor.authorKrebs-Schmitt, Dorothee
dc.contributor.authorHartleif, Steffen
dc.contributor.authorvan der Woerd, Wendy L.
dc.contributor.authorWang, Jian-She
dc.contributor.authorLi, Li-ting
dc.contributor.authorDurmaz, Ozlem
dc.contributor.authorKerkar, Nanda
dc.contributor.authorJorgensen, Marianne Horby
dc.contributor.authorFischer, Ryan
dc.contributor.authorJimenez-Rivera, Carolina
dc.contributor.authorAlam, Seema
dc.contributor.authorCananzi, Mara
dc.contributor.authorLaverdure, Noemie
dc.contributor.authorFerreira, Cristina Targa
dc.contributor.authorOrdonez, Felipe
dc.contributor.authorWang, Heng
dc.contributor.authorSency, Valerie
dc.contributor.authorKim, Kyung Mo
dc.contributor.authorChen, Huey-Ling
dc.contributor.authorCarvalho, Elisa
dc.contributor.authorFabre, Alexandre
dc.contributor.authorHorslen, Simon
dc.contributor.authorKamath, Binita M.
dc.contributor.authorRogalidou, Maria
dc.contributor.authorKarnsakul, Wikrom W.
dc.contributor.authorHansen, Bettina
dc.contributor.authorVerkade, Henkjan J.
dc.contributor.authorThompson, Richard J.
dc.contributor.authorGonzales, Emmanuel
dc.contributor.authorJankowska, Irena
dc.contributor.authorShneider, Benjamin L.
dc.contributor.authorQuintero Bernabeu, Jesus
dc.contributor.authorAlonso, Estella M.
dc.contributor.authorSokol, Ronald J.
dc.contributor.authorSuchy, Frederick J.
dc.contributor.authorLoomes, Kathleen M.
dc.contributor.authorMcKiernan, Patrick J.
dc.contributor.authorRosenthal, Philip
dc.contributor.authorTurmelle, Yumirle
dc.contributor.authorRao, Girish S.
dc.contributor.authorSokal, Etienne
dc.contributor.authorGrammatikopoulos, Tassos
dc.contributor.authorKadaristiana, Agustina
dc.contributor.authorJacquemin, Emmanuel
dc.contributor.authorSpraul, Anne
dc.contributor.authorvan Wessel, Daan B. E.
dc.contributor.authorCzubkowski, Piotr
dc.contributor.authorRock, Nathalie
dc.contributor.authorShagrani, Mohammad
dc.contributor.authorBroering, Dieter
dc.contributor.authorAlgoufi, Talal
dc.contributor.authorMazhar, Nejat
dc.contributor.authorNicastro, Emanuele
dc.contributor.authorKelly, Deirdre
dc.contributor.authorNebbia, Gabriella
dc.contributor.authorArnell, Henrik
dc.contributor.authorFischler, Bjorn
dc.contributor.authorHulscher, Jan B. F.
dc.contributor.authorSerranti, Daniele
dc.contributor.authorArikan, Cigdem
dc.contributor.authorDebray, Dominique
dc.contributor.authorLacaille, Florence
dc.contributor.authorGoncalves, Cristina
dc.contributor.authorHierro, Loreto
dc.contributor.authorMunoz Bartolo, Gema
dc.contributor.authorMozer-Glassberg, Yael
dc.date.accessioned2021-12-10T13:16:44Z
dc.date.available2021-12-10T13:16:44Z
dc.identifier.citationvan Wessel D. B. E. , Thompson R. J. , Gonzales E., Jankowska I., Shneider B. L. , Sokal E., Grammatikopoulos T., Kadaristiana A., Jacquemin E., Spraul A., et al., "Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency", HEPATOLOGY, cilt.74, ss.892-906, 2021
dc.identifier.issn0270-9139
dc.identifier.othervv_1032021
dc.identifier.otherav_fb77b578-8e9f-45d3-beee-f7a6a2641062
dc.identifier.urihttp://hdl.handle.net/20.500.12627/175814
dc.identifier.urihttps://doi.org/10.1002/hep.31787
dc.description.abstractBackground 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] mu mol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28-1.03, P = 0.06) and post-SBD sBA concentrations < 65 mu mol/L (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.
dc.language.isoeng
dc.subjectGastroenteroloji-(Hepatoloji)
dc.subjectGastroenterology
dc.subjectHepatology
dc.subjectHealth Sciences
dc.subjectGASTROENTEROLOJİ VE HEPATOLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.titleImpact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
dc.typeMakale
dc.relation.journalHEPATOLOGY
dc.contributor.departmentUniversity of Groningen , ,
dc.identifier.volume74
dc.identifier.startpage892
dc.identifier.endpage906
dc.contributor.firstauthorID2694900


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