Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
Daan B E van WesselRichard J ThompsonEmmanuel M GonzalesIrena JankowskaBenjamin L ShneiderEtienne M SokalTassos GrammatikopoulosAgustina KadaristianaEmmanuel JacqueminAnne SpraulPatryk LipińskiPiotr CzubkowskiNathalie RockMohammad ShagraniDieter BroeringTalal AlgoufiNejat MazharEmanuele NicastroDeirdre KellyGabriella NebbiaHenrik ArnellBjörn FischlerJan B F HulscherDaniele SerrantiCigdem ArikanDominique DebrayFlorence LacailleCristina GoncalvesLoreto HierroGema Muñoz BartoloYael Mozer-GlassbergAmer AzazJernej BreceljAntal DezsőfiPier Luigi CalvoDorothee Krebs-SchmittSteffen HartleifWendy L van der WoerdJian-She WangLi-Ting LiÖzlem DurmazNanda KerkarMarianne Hørby JørgensenRyan FischerCarolina Jimenez-RiveraSeema AlamMara CananziNoémie LaverdureCristina Targa FerreiraFelipe OrdonezHeng WangValerie SencyKyung Mo KimHuey-Ling ChenElisa CarvalhoAlexandre FabreJesus Quintero BernabeuEstella M AlonsoRonald J SokolFrederick J SuchyKathleen M LoomesPatrick J McKiernanPhilip RosenthalYumirle TurmelleGirish S RaoSimon HorslenBinita M KamathMaria RogalidouWikrom W KarnsakulBettina HansenHenkjan J Verkadenull nullPublished in: Hepatology (Baltimore, Md.) (2021)
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.