387
Views
29
CrossRef citations to date
0
Altmetric
Review

Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment

&
Pages 95-104 | Published online: 10 Sep 2018

References

  • FawazRBaumannUEkongUGuideline for the evaluation of cholestatic jaundice in infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and NutritionJ Pediatr Gastroentero Nutr2017641154168
  • GhentCNBloomerJRKlatskinGElevations in skin tissue levels of bile acids in human cholestasis: relation to serum levels and to pruritusGastroenterology197773511251130908491
  • Davit-SpraulAGonzalesEBaussanCJacqueminEProgressive familial intrahepatic cholestasisOrphanet J Rare Dis2009411219133130
  • WagnerMZollnerGTraunerMNew molecular insights into the mechanisms of cholestasisJ Hepatol200951356558019595470
  • JaquimeneEProgressive familial intrahepatic cholestasisClin Res Hepatol Gastroentrol201236Suppl 1S26S35
  • BullLNCarltonVEStrickerNLGenetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneityHepatology19972611551649214465
  • ClaytonRJIberFLRuebnerBHMckusickVAByler disease. Fatal familial intrahepatic cholestasis in an Amish kindredAm J Dis Child196911711121245762004
  • van der WoerdWLHouwenRHvan de GraafSFCurrent and future therapies for inherited cholestatic liver diseasesWorld J Gastroenterol201723576377528223721
  • SrivastavaAProgressive familial intrahepatic cholestasisJ Clin Exp Hepatol201441253625755532
  • Oude ElferinkRPKremerAEMartensJJBeuersUHThe molecular mechanism of cholestatic pruritusDig Dis2011291667121691108
  • ZollnerGTraunerMMechanisms of cholestasisClin Liver Dis200812112618242495
  • GongZXuWJTianGLZhangTLvZNeonatal intrahepatic cholestasis caused by citrin deficiency differentiated from biliary atresiaEur J Pediatr Surg201626325525925988746
  • PouponRIntrahepatic cholestasis of pregnancy: from bedside to bench to bedsideLiver Int200525346746815910481
  • PerHArslanDGümüşHCoskunAKumandaşSIntracranial hemorrhages and late hemorrhagic disease associated cholestatic liver diseaseNeurol Sci2013341515622327309
  • ArnellHFischlerBBergdahlSHepatobiliary scintigraphy during cholestatic and noncholestatic periods in patients with progressive familial intrahepatic cholestasis after partial external biliary diversionJ Pediatr Surg201146346747221376194
  • EvasonKBoveKEFinegoldMJMorphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studiesAm J Surg Pathol201135568769621490445
  • TogawaTSugiuraTItoKMolecular genetic dissection and neonatal/infantile intrahepatic cholestasis using targeted next-generation sequencingJ Pediatr201617117117726858187
  • FeranchakAPRamirezROSokalRJMedical and nutritional management of cholestasiSuchyFJSokolRJBalistreriWFLiver Disease in Children2nd edPhiladephia, PALippincott Williams and Wilkins2001195238
  • van DijkRKremerAESmitWCharacterization and treatment of persistent hepatocellular secretory failureLiver Int20153541478148824905729
  • JacqueminEde VreeJMCresteilDThe wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthoodGastroenterology200112061448145811313315
  • HasegawaYHayashiHNaoiSIntractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1Orphanet J Rare Dis201498925022842
  • NaoiSHayashiHInoueTImproved liver function and relieved pruritus after 4-phenylbutyrate therapy in a patient with progressive familial intrahepatic cholestasis type 2J Pediatr201416451219122724530123
  • WangKSTiaoGBassLMChildhood Liver Disease Research Network (ChiLDReN). Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasisHepatology20176551645165428027587
  • WhitingtonPFWhitingtonGLPartial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasisGastroenterology19889511301363371608
  • GunaydinMTanderBDemirelDDifferent techniques for biliary diversion in progressive familial intrahepatic cholestasisJ Pediatr Surg201651338638926382286
  • CiesJJGiamalisJNTreatment of cholestatic pruritus in childrenAm J Health Syst Pharm200764111157116217519457
  • SchukfehNMetzelderMLPetersenCNormalization of serum bile acids after partial external biliary diversion indicates an excellent long-term outcome in children with progressive familial intrahepatic cholestasisJ Pediatr Surg201247350150522424345
  • YangHPorteRJVerkadeHJde LangenZJHulscherJBPartial external biliary diversion in children with progressive familial intrahepatic cholestasis and Alagille diseaseJ Pediatr Gastroenterol Nutr200949221622119561545
  • ArnellHPapadogiannakisNZemackHFollow-up in children with progressive familial intrahepatic cholestasis after partial external biliary diversionJ Pediatr Gastroenterol Nutr201051449449920683202
  • HalaweishIChwalsWJLong-term outcome after partial external biliary diversion for progressive familial intrahepatic cholestasisJ Pediatr Surg201045593493720438930
  • RamachandranPShanmugamNPSinaniSAOutcome of partial internal biliary diversion for intractable pruritus in children with cholestatic liver diseasePediatr Surg Int201430101045104925064227
  • DiaoMLiLZhangJSYeMChengWLaparoscopic cholecystocolostomy: a novel surgical approach for the treatment of progressive familial intrahepatic cholestasisAnn Surg201325861028103323187749
  • MousaviSAKaramiHPartial internal biliary diversion in progressive familial intrahepatic cholestasis: introduction of a new approachHepat Mon2014143e1354924693315
  • MochizukiKObatakeMTakatsukiMPartial internal biliary diversion for patients with progressive familial intrahepatic cholestasis type 1Pediatr Surg Int2012281515422033772
  • KalicińskiPJIsmailHJankowskaISurgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypassEur J Pediatr Surg200313530731114618520
  • MaliVPFukudaAShigetaTTotal internal biliary diversion during liver transplantation for type 1 progressive familial intrahepatic cholestasis: a novel approachPediatr Transplant201620798198627534385
  • KeitelVBurdelskiMVojnisekZDe novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasisHepatology200950251051719642168
  • EnglertCGrabhornERichterALiver transplantation in children with progressive familial intrahepatic cholestasisTransplantation200784101361136318049123
  • SieboldLDickAAThompsonRRecurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease)Liver Transpl201016785686320583290
  • KubitzRDrögeCKlugeSAutoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasisClin Rev Allergy Immunol2015482-327328425342496
  • BaghdasaryanAFuchsCDÖsterreicherCHInhibition of intestinal bile acid absorption improves cholestatic liver and bile duct injury in a mouse model of sclerosing cholangitisJ Hepatol201664367468126529078
  • StapelbroekJMvan ErpecumKJKlompLWHouwenRHLiver disease associated with canalicular transport defects: current and future therapiesJ Hepatol201052225827120034695
  • MiethkeAGZhangWSimmonsJPharmacological inhibition of apical sodium-dependent bile acid transporter changes bile composition and blocks progression of sclerosing cholangitis in multidrug resistance 2 knockout miceHepatology201663251252326172874
  • CarielloMPiccininEGarcia-IrıgoyenONuclear Receptor FXR, bile acids and liver damage: introducing the progressive familial intrahepatic cholestasis with FXR mutationsBiochim Biophys Acta2017S0925S4439173033430344
  • PellicciariRFiorucciSCamaioniE6alpha-ethyl-chenodeoxycholic acid (6-ECDCA), a potent and selective FXR agonist endowed with anticholestatic activityJ Med Chem200245173569357212166927
  • HegadeVSSpeightRAEtheringtonREJonesDENovel bile acid therapeutics for the treatment of chronic liver diseasesTherap Adv Gastroenterol201693376391
  • ZhouMWangXPhungVSeparating tumorigenicity from bile acid regulatory activity for endocrine hormone FGF19Cancer Res201474123306331624728076
  • MitryRRHughesRDDhawanAHepatocyte transplantationJ Clin Exp Hepatol20111210911425755322
  • TakebeTSekineKEnomuraMVascularized and functional human liver from an iPSC-derived organ bud transplantNature2013499745948148423823721
  • JansenPLMüllerMSturmEGenes and cholestasisHepatology20013461067107411731993
  • BullLNvan EijkMJPawlikowskaLA gene encoding a P-type ATPase mutated in two forms of hereditary cholestasisNat Genet19981832192249500542
  • StrautnieksSSBullLNKniselyASA gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasisNat Genet19982032332389806540
  • DeleuzeJFJacqueminEDubuissonCDefect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasisHepatology19962349049088666348
  • Gomez-OspinaNPotterCJXiaoRMutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNat Commun201671071326888176
  • CutilloLNajimiMSmetsFSafety of living-related liver transplantation for progressive familial intrahepatic cholestasisPediatr Transplant200610557057416856993