Student or educator? Sign up with your school email and get 6 months of Pro free.
CoChat
Sign Up
Cited by 482

The DOI matches its Crossref record.

Progressive familial intrahepatic cholestasis

Open access
Davit-Spraul, Anne, Gonzales, Emmanuel, Baussan, Christiane, Jacquemin, Emmanuel·2009·Orphanet Journal of Rare Diseases
DOI 10.1186/1750-1172-4-1
Open this paper in CoChat — free account

Abstract

Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies between 1/50,000 and 1/100,000 births. Three types of PFIC have been identified and related to mutations in hepatocellular transport system genes involved in bile formation. PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood. Main clinical manifestations include cholestasis, pruritus and jaundice. PFIC patients usually develop fibrosis and end-stage liver disease before adulthood. Serum gamma-glutamyltransferase (GGT) activity is normal in PFIC1 and PFIC2 patients, but is elevated in PFIC3 patients. Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due respectively to defects in ATP8B1 encoding the FIC1 protein, and in ABCB11 encoding the bile salt export pump protein (BSEP). Defects in ABCB4, encoding the multi-drug resistant 3 protein (MDR3), impair biliary phospholipid secretion resulting in PFIC3. Diagnosis is based on clinical manifestations, liver ultrasonography, cholangiography and liver histology, as well as on specific tests for excluding other causes of childhood cholestasis. MDR3 and BSEP liver immunostaining, and analysis of biliary lipid composition should help to select PFIC candidates in whom genotyping could be proposed to confirm the diagnosis. Antenatal diagnosis can be proposed for affected families in which a mutation has been identified. Ursodeoxycholic acid (UDCA) therapy should be initiated in all patients to prevent liver damage. In some PFIC1 or PFIC2 patients, biliary diversion can also relieve pruritus and slow disease progression. However, most PFIC patients are ultimately candidates for liver transplantation. Monitoring of hepatocellular carcinoma, especially in PFIC2 patients, should be offered from the first year of life. Hepatocyte transplantation, gene therapy or specific targeted pharmacotherapy may represent alternative treatments in the future.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1186/1750-1172-4-1

Cites

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

No references could be resolved yet.

Research works printed but not linked: 88

  1. Jacquemin E: Progressive familial intrahepatic cholestasis: genetic basis and treatment. In: Pediatric liver. Clin Liver Dis. 2000, 4: 753-763. 10.1016/S1089-3261(05)70139-2. · DOI
  2. Van Mil SWC, Houwen RHJ, Klomp LWJ: Genetics of intrafamilial cholestasis syndromes. J Med Genet. 2005, 42: 449-463. 10.1136/jmg.2004.026187. · DOI
  3. Baussan C, Cresteil D, Gonzales E, Raynaud N, Dumont M, Bernard O, Hadchouel M, Jacquemin E: Genetic cholestatic liver diseases:The example of progressive familial intrahepatic cholestasis and related disorders. Acta Gastroenterol Belg. 2004, 64 (3): 179-183.
  4. Bull LN, Carlton VEH, Stricker NL, Baharloo S, DeYoung JA, Freimer NB, Magid MS, Kahn E, Markowitz J, DiCarlo FJ, McLoughlin L, Boyle JT, Dahms BB, Faught PR, Fitzgerald JF, Piccoli DA, Witzleben CL, O'Connell NC, Setchell KD, Agostini RM, Kocoshis SA, Reyes J, Knisely AS: Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneity. Hepatology. 1997, 26: 155-164. 10.1002/hep.510260121. · DOI · Paper page
  5. Jansen PLM, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJEJ, Koning JH, de Jager-Krikken A, Kuipers F, Stellard F, Bijleveld CMA, Gouw A, van Goor H, Thompson RJ, Muller M: Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology. 1999, 117: 1370-1379. 10.1016/S0016-5085(99)70287-8. · DOI · Paper page
  6. Van Mil SWC, Klomp L, Bull LN, Houwen RH: FIC1 disease: A spectrum of intrahepatic cholestatic disorders. Semin Liv Dis. 2001, 21: 535-544. 10.1055/s-2001-19034. · DOI
  7. Thompson R, Strautnieks S: BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liv Dis. 2001, 21: 545-550. 10.1055/s-2001-19038. · DOI
  8. Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH, Jeng YM, Shau WY, Chang MH: FIC1 and BSEP defects in taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr. 2002, 140: 119-124. 10.1067/mpd.2002.119993. · doi:10.1067/mpd.2002.119993
  9. Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, Bernard O, Jacquemin E: Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol. 2003, 39: 447-452. 10.1016/S0168-8278(03)00286-1. · DOI
  10. Jacquemin E: Role of multidrug resistance 3 deficiency in pediatric and adult liver disease:one gene for three diseases. Semin Liv Dis. 2001, 21: 551-562. 10.1055/s-2001-19033. · DOI
  11. Jacquemin E, de Vree JLM, Cresteil D, Sokal EM, Sturm E, Dumont M, Scheffer GL, Paul M, Burdelski M, Bosma PJ, Bernard O, Hadchouel M, Oude Elferink RPJ: The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology. 2001, 120: 1448-1458. 10.1053/gast.2001.23984. · DOI · Paper page
  12. Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LWJ, Lomri N, Berger R, Scharschmidt BR, Knisely AS, Houwen RHJ, Freimer NB: A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998, 18: 219-224. 10.1038/ng0398-219. · DOI · Paper page
  13. Klomp LWJ, Bull LN, Knisely AS, Doelen van Der MA, Juijn JA, Berger R, Forget S, Nielsen IM, Eiberg H, Houwen RH: A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology. 2000, 32: 1337-1341. 10.1053/jhep.2000.20520. · DOI
  14. Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, Arias IM: Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology. 2001, 34: 768-775. 10.1053/jhep.2001.27663. · DOI
  15. Eppens EF, van Mil SW, de Vree JM, Mok KS, Juijn JA, Oude Elferink RP, Berger R, Houwen RH, Klomp LW: FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatology. 2001, 35: 436-443. 10.1016/S0168-8278(01)00158-1. · DOI
  16. Demeilliers C, Jacquemin E, Barbu V, Mergey M, Paye F, Fouassier L, Chignard N, Housset C, Lomri NE: Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Hepatology. 2006, 43: 1125-1134. 10.1002/hep.21160. · DOI
  17. Paulusma CC, Groen A, Kunne C, Ho-Mok KS, Spijkerboer AL, Rudi de Waart D, Hoek FJ, Vreeling H, Hoeben KA, van Marle J, Pawlikowska L, Bull LN, Hofmann AF, Knisely AS, Oude Elferink RP: Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology. 2006, 44: 195-204. 10.1002/hep.21212. · DOI
  18. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, Strautnieks SS, Thompson RJ, Magid MS, Gordon R, Balasubramanian N, Suchy FJ, Shneider BL: Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid × receptor activity. Gastroenterology. 2004, 126: 756-764. 10.1053/j.gastro.2003.12.013. · DOI
  19. Alvarez L, Jara P, Sánchez-Sabaté E, Hierro L, Larrauri J, Díaz MC, Camarena C, De la Vega A, Frauca E, López-Collazo E, Lapunzina P: Reduced hepatic expression of farnesoid × receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet. 2004, 13: 2451-2460. 10.1093/hmg/ddh261. · DOI
  20. Egawa H, Yorifuji T, Sumazaki R, Kimura A, Hasegawa M, Tanaka K: Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. Liver Transplant. 2002, 8: 714-716. 10.1053/jlts.2002.34384. · doi:10.1053/jlts.2002.34384
  21. Klomp LWJ, Vargas JC, Van Mil SWC, Pawlikowska L, Strautnieks SS, Van Eijk MJT, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, Brugge Van Der G, Berger R, Jankowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RHJ, Bull LN: Characterization of mutations in ATP8B1 Associated with hereditary cholestasis. Hepatology. 2004, 40: 27-38. 10.1002/hep.20285. · DOI · Paper page
  22. Müllenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, Chambers J, Howard R, Taylor-Robinson SD, Williamson C: ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut. 2005, 54: 829-834. 10.1136/gut.2004.058115. · DOI
  23. Painter JN, Savander M, Ropponen A, Nuponnen N, Riikonen S, Ylikorkala , Lehesjoki AE, Aittomaki K: Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet. 2005, 13: 435-439. 10.1038/sj.ejhg.5201355. · DOI
  24. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ: A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998, 20: 233-238. 10.1038/3034. · DOI · Paper page
  25. Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ: Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008, 134: 1203-1214. 10.1053/j.gastro.2008.01.038. · DOI · Paper page
  26. Hayashi H, Takada T, Suzuki H, Akita H, Sugiyama Y: Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11. Hepatology. 2005, 41: 916-924. 10.1002/hep.20627. · doi:10.1002/hep.20627
  27. Hayashi H, Sugiyama Y: 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. Hepatology. 2007, 45: 1506-1516. 10.1002/hep.21630. · DOI
  28. Lam P, Pearson CL, Soroka CJ, Xu S, Mennone A, Boyer JL: Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol. 2007, 293: C1709-16. 10.1152/ajpcell.00327.2007. · DOI
  29. Kagawa T, Watanabe N, Mochizuki K, Numari A, Ikeno Y, Itoh J, Tanaka H, Arias IM, Mine T: Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. Am J Physiol Gastrointest Liver Physiol. 2008, 294: G58-67. 10.1152/ajpgi.00367.2007. · DOI
  30. Van Mil SWC, Woerd Van den WL, Brugge Van den G, Sturm E, Jansen PLM, Bull LN, Berg Van den IET, Berger R, Houwen RHJ, Klomp LWJ: Benign recurrent intrahepatic cholestasis type2 is caused by mutations in ABCB11. Gastroenterology. 2004, 127: 379-384. 10.1053/j.gastro.2004.04.065. · DOI · Paper page
  31. Kong FM, Sui CY, Li YJ, Guo KJ, Guo RX: Hepatobiliary membrane transporters involving in the formation of cholesterol calculus. Hepatobiliary Pancreat Dis Int. 2006, 5: 286-289.
  32. Pauli-Magnus C, Lang T, Meier Y, Zodan-Marin T, Jung D, Breymann C, Zimmermann R, Kenngott S, Beuers U, Reichel C, Kerb R, Penger A, Meier PJ, Kullak-Ulbick GA: Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics. 2004, 14: 91-102. 10.1097/00008571-200402000-00003. · DOI · Paper page
  33. Pauli-Magnus C, Meier PJ: Hepatobiliary transporters and drug-induced cholestasis. Hepatology. 2006, 44: 778-787. 10.1002/hep.21359. · DOI · Paper page
  34. Hermeziu B, Sanlaville D, Girard M, Léonard C, Lyonnet S, Jacquemin E: Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr. 2006, 42: 7-8. 10.1097/01.mpg.0000188739.54004.db. · doi:10.1097/01.mpg.0000184429.34001.68
  35. Ziol M, Barbu V, Rosmorduc O, Frassati-Biaggi A, Barget N, Hermelin B, Scheffer GL, Bennouna S, Trinchet JC, Beaugrand M, Ganne-Carrié N: ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology. 2008, 135: 131-141. 10.1053/j.gastro.2008.03.044. · DOI
  36. Deleuze JF, Jacquemin E, Dubuisson C, Cresteil D, Dumont M, Erlinger S, Bernard O, Hadchouel M: Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology. 1996, 23: 904-908. 10.1002/hep.510230435. · DOI · Paper page
  37. De Vree JML, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, Deleuze JF, Desrochers M, Burdelski M, Bernard O, Oude Elferink RPJ, Hadchouel M: Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA. 1998, 95: 282-287. 10.1073/pnas.95.1.282. · DOI · Paper page
  38. Gottesman MM, Hrycyna CA, Schoenlein PV, Germann UA, Pastan I: Genetic analysis of the multidrug transporter. Annu Rev Genet. 1995, 29: 607-649. 10.1146/annurev.ge.29.120195.003135. · DOI · Paper page
  39. Beaudet L, Urbatsch IL, Gros P: Mutations in the nucleotide-binding sites of P-glycoprotein that affect substrate specificity modulate substrate-induced adenosine triphosphatase activity. Biochemistry. 1998, 37: 9073-9082. 10.1021/bi972656j. · doi:10.1021/bi972656j
  40. Urbatsch IL, Beaudet L, Carrier I, Gros P: Mutations in either nucleotide-binding site of P-glycoprotein (Mdr3) prevent vanadate trapping of nucleotide at both sites. Biochemistry. 1998, 37: 4592-4602. 10.1021/bi9728001. · DOI
  41. Morita SY, Kobayashi A, Takanezawa Y, Kioka N, Handa T, Arai H, Matsuo M, Ueda K: Bile salt-dependant efflux of cellular phospholipids mediated by ATP binding cassette protein B4. Hepatology. 2007, 46: 188-199. 10.1002/hep.21591. · DOI
  42. Riordan JR: Cystic fibrosis as a disease of misprocessing of the cystic fibrosis transmembrane conductance regulator glycoprotein. Am J Hum Genet. 1999, 64: 1499-1504. 10.1086/302429. · DOI
  43. Dixon PH, Weerasekera N, Linton KJ, Donaldson O, Chambers J, Egginton E, Weaver J, Nielson-Piercy C, De Sweit M, Warnes G, Elias E, Higgins CF, Johnston DG, McCarty MI, Williamson C: Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet. 2000, 9: 1209-1217. 10.1093/hmg/9.8.1209. · DOI · Paper page
  44. Durand-Schneider AM, Abarane A, Delautier D, Ait Slimane T, Delaunay JL, Gora S, Trugnan G, Jacquemin E, Maurice M: Effect of missense mutations of the MDR3 gene identified in patients with progressive familial intrahepatic cholestasis type III. Hepatology. 2003, 44: 622A.
  45. Jacquemin E, Cresteil D, Manouvrier S, Boute O, Hadchouel M: Heterozygous non-sense mutation of MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet. 1999, 353: 210-211. 10.1016/S0140-6736(05)77221-4. · DOI · Paper page
  46. Müllenbach R, Linton KJ, Wiltshire S, Weerasekera N, Chambers J, Elias E, Higgins CF, Johnston DG, McCarthy MI, Williamson C: ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy. J Med Genet. 2003, 40: e70-74. 10.1136/jmg.40.5.e70. · DOI
  47. Gendrot C, Bacq Y, Brechot MC, Lansac J, Andres C: A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet. 2003, 40: e32-34. 10.1136/jmg.40.3.e32. · doi:10.1136/jmg.40.3.e32
  48. Keitel V, Vogt C, Haussinger D, Kubitz R: Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology. 2006, 131: 624-629. 10.1053/j.gastro.2006.05.003. · DOI
  49. Rosmorduc O, Hermelin B, Poupon R: MDR3 gene defect in adults with symptomatic intrahepethic and gallbladder cholesterol cholelithiasis. Gastroenterology. 2001, 120: 1459-1467. 10.1053/gast.2001.23947. · DOI · Paper page
  50. Rosmorduc O, Hermelin B, Boelle PY, Parc R, Taboury J, Poupon R: ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology. 2003, 125: 452-459. 10.1016/S0016-5085(03)00898-9. · DOI · Paper page
  51. Kano M, Shoda J, Sumazaki R, Oda K, Nimur Y, Tanaka N: Mutations identified in human multidrug resistance P-glycoprotein 3 (ABCB4) gene in patients with primary hepatolithiasis. Hepatol Res. 2004, 29: 160-166. 10.1016/j.hepres.2004.03.002. · DOI
  52. Rosmorduc O, Poupon R: Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007, 2: 29-34. 10.1186/1750-1172-2-29. · DOI
  53. Ganne-Carrié N, Baussan C, Grando V, Gaudelus J, Cresteil D, Jacquemin E: Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills. J Hepatol. 2003, 38: 693-694. 10.1016/S0168-8278(03)00049-7. · DOI
  54. Trauner M, Fickert P, Wagner M: MDR3 (ABCB4) defects: a paradigm for the genetics of adult cholestatic syndromes. Semin Liver Dis. 2007, 27: 77-98. 10.1055/s-2006-960172. · DOI
  55. Lang C, Meier Y, Stieger B, Ulrich B, Lang T, Kerb R, Kullak-Ublick GA, Meier PJ, Pauli-Magnus C: Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics. 2007, 17: 47-60. · DOI · Paper page
  56. Jung C, Driancourt C, Baussan C, Zater M, Hadchouel M, Meunier-Rotival M, Guiochon-Mantel A, Jacquemin E: Prenatal molecular diagnosis of inherited cholestatic diseases. J Pediatr Gastroenterol Nutr. 2007, 44: 453-458. · doi:10.1097/mpg.0b013e318036a569
  57. Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, Sola J, Herraiz M, Medina JF, Prieto J: A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology. 2003, 124: 1037-1042. 10.1053/gast.2003.50144. · DOI
  58. Balistreri WF: Inborn errors of bile acid biosynthesis and transport: Novel form of metabolic liver diseases. Gastroenterol Clin North Am. 1999, 28: 145-172. 10.1016/S0889-8553(05)70048-0. · DOI
  59. Debray D, Pariente D, Urvoas E, Hadchouel M, Bernard O: Sclerosing cholangitis in children. J Pediatr. 1994, 124: 49-56. 10.1016/S0022-3476(94)70253-5. · DOI
  60. Balistreri WF, Bezzera JA, Jansen P, Karpen SJ, Shneider BJ, Suchy FK: Intrahepatic cholestasis: summary of an American association for study of liver diseases single-topic conference. Hepatology. 2005, 42: 222-235. 10.1002/hep.20729. · DOI
  61. Houdayer C, Dehainault C, Mattler C, Michaux D, Caux-Moncoutier V, Pages-Berhouet S, Dubois d'Enghein, Laugé A, Castera L, Gauthier-Villars M, Stoppa-Lyonnet D: Evaluation of in silico tools for decision making in molecular diagnosis. Human Mut. 2008, 29: 975-982. 10.1002/humu.20765. · DOI
  62. Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R: Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology. 2007, 132: 119-126. 10.1053/j.gastro.2006.10.034. · doi:10.1053/j.gastro.2006.10.034
  63. Morton DH, Salen G, Batta AK, Shefer S, Tint GS, Belchis D, Shneider B, Puffenberger E, Bull L, Knisely AS: Abnormal hepatic sinusoidal bile acid transport in an amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology. 2000, 119: 188-195. 10.1053/gast.2000.8547. · DOI
  64. Carlton VEH, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN: Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003, 34: 91-96. 10.1038/ng1147. · DOI · Paper page
  65. Phillips MJ, Azuma T, Meredith SL, Squire JA, Ackerley CA, Pluthero FG, Roberts EA, Superina RA, Levy GA, Marsden PA: Abnormalities in villin gene expression and canalicular microvillus structure in progressive cholestatic liver disease of childhood. Lancet. 2003, 362: 1090-1091. 10.1016/S0140-6736(03)14467-4. · doi:10.1016/s0140-6736(03)14467-4
  66. Shneider BL, Fox VL, Schwarz KB, Watson CL, Ananthanarayanan M, Thevananther S, Christie DM, Hardikar W, Setchell KD, Mieli-Vergani G, Suchy FJ, Mowat AP: Hepatic basolateral sodium-dependent-bile acid transporter expression in two unusual cases of hypercholanemia and in extrahepatic biliary atresia. Hepatology. 1997, 2: 1176-1183. 10.1002/hep.510250521. · DOI
  67. Zhu QS, Xing W, Qian B, von Dippe P, Shneider BL, Fox VL, Levy D: Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia. Biochim Biophys Acta. 2003, 1638: 208-216. · DOI
  68. Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet. 2004, 36: 400-404. 10.1038/ng1325. · DOI · Paper page
  69. Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hachouel M, Smahi A: Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology. 2004, 127: 1386-1390. 10.1053/j.gastro.2004.07.022. · DOI · Paper page
  70. Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A: A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet. 2002, 71: 1443-1449. 10.1086/344580. · DOI
  71. Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, Hagen van Der CB, Eiklid K, Aagenaes O, Freimer NB: Mapping of the locus for cholestasis-lymphedema syndrome (Aagenes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet. 2000, 67: 994-999. 10.1086/303080. · doi:10.1086/303080
  72. Jacquemin E, Hermans D, Myara A, Habes D, Debray D, Hadchouel M, Sokal EM, Bernard O: Ursodeoycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology. 1997, 25: 519-523. 10.1002/hep.510250303. · DOI
  73. Modi BP, Suh MY, Jonas MM, Lillehei C, Kim HB: Ileal exclusion for refractory symptomatic cholestasis in Alagille syndrome. J Pediatr Surg. 2007, 42: 800-805. 10.1016/j.jpedsurg.2006.12.032. · doi:10.1016/j.jpedsurg.2006.12.032
  74. Bustorff-Silva J, Sbraggia Neto L, Olímpio H, de Alcantara RV, Matsushima E, De Tommaso AM, Brandão MA, Hessel G: Partial internal biliary diversion through a cholecystojejunocolonic anastomosis – a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. J Pediatr Surg. 2007, 42: 1337-1340. 10.1016/j.jpedsurg.2007.03.029. · doi:10.1016/j.jpedsurg.2007.03.029
  75. Stapelbroek JM, van Erpecum KJ, Klomp LW, Venneman NG, Schwartz TP, van Berge Henegouwen GP, Devlin J, van Nieuwkerk CM, Knisely AS, Houwen RH: Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology. 2006, 43: 51-53. 10.1002/hep.20998. · DOI
  76. Soubrane O, Gauthier F, DeVictor D, Bernard O, Valayer J, Houssin D, Chapuis Y: Orthotopic liver transplantation for Byler disease. Transplantation. 1990, 50: 804-806. 10.1097/00007890-199011000-00012. · doi:10.1097/00007890-199011000-00012
  77. De Vree JML, Ottenhoff R, Bosma PJ, Smith AJ, Aten J, Oude Elferink RPJ: Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis. Gastroenterology. 2000, 119: 1720-1730. 10.1053/gast.2000.20222. · DOI · Paper page
  78. Boyer JL: Nuclear receptor ligands: rational and effective therapy for chronic cholestatic liver disease. Gastroenterology. 2005, 129: 735-740. · DOI
  79. Trauner M, Wagner M, Ficket P, Zollner G: Molecular regulation of hepatobiliary transport systems. Clinical implications for understanding and treating cholestasis. J Clin Gastroenterol. 2005, 39: S111-124. 10.1097/01.mcg.0000155551.37266.26. · DOI
  80. Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawłowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ: Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology. 2006, 44: 478-486. 10.1002/hep.21287. · DOI · Paper page
  81. Van Mil SWC, Milona A, Dixon PH, Mullenbach R, Geenes VL, Chambers J, Shevchuck V, Moore GE, Lammert F, Glantz AG, Mattson LA, Whittaker J, Parker MG, White R, Williamson C: Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy. Gastroenterology. 2007, 133: 507-516. 10.1053/j.gastro.2007.05.015. · DOI · Paper page
  82. Paulusma CC, Folmer DE, Ho-Mok KS, de Waart DR, Hilarius PM, Verhoeven AJ, Oude Elferink RP: ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology. 2008, 47: 268-278. 10.1002/hep.21950. · DOI · Paper page
  83. Ortiz D, Arias IM: MDR3 mutations: A glimpse into Pandora's box and the future of canalicular pathophysiology. Gastroenterology. 2001, 120: 1549-1552. 10.1053/gast.2001.24399. · doi:10.1053/gast.2001.24399
  84. Cutillo L, Najimi M, Smets F, Janssen M, Reding R, de Ville de Goyet J, Sokal EM: Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis. Pediatr Transplant. 2006, 10: 570-574. 10.1111/j.1399-3046.2006.00524.x. · doi:10.1111/j.1399-3046.2006.00524.x
  85. Smit JJ, Schinkel AH, Oude Elferink RP, Groen AK, Wagenaar E, van Deemter L, Mol CA, Ottenhoff R, Lugt van der NM, Van Roon MA: Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipids from bile and to liver. Cell. 1993, 75: 451-462. 10.1016/0092-8674(93)90380-9. · DOI · Paper page
  86. Wang R, Lam P, Liu L, Forrest D, YousSef IM, Mignault Diane, Phillips MJ, Ling V: Severe cholestasis induced by cholic acid feeding in knockout mice of sister of P-glycoprotein. Hepatology. 2003, 38: 1489-1499. · DOI
  87. Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Oude Elferink RPJ, Freimer NB: A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Human Mol Gen. 2004, 13: 881-892. 10.1093/hmg/ddh100. · DOI
  88. Henderson CJ, Pass GJ, Roland Wolf C: The hepatic cytochrome P450 reductase null mouse as tool to identify a successful candidate entity. Toxicology Letters. 2006, 162: 111-117. 10.1016/j.toxlet.2005.10.016. · DOI

Cited by

See all 482

Metadata

Authors
Davit-Spraul, A., Gonzales, E., Baussan, C., & Jacquemin, E.
Venue
Orphanet Journal of Rare Diseases
Publisher
Springer Science and Business Media LLC
Published
2009-01-08
Volume
4
Issue
1
Pages
1-1
ISSN
1750-1172 (ISSN-L)
DOI
10.1186/1750-1172-4-1
OpenAlex
W1994409700
Cited by
482
References
0
FWCI
12.08
Type
journal article
Language
en
Open access
gold

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Progressive familial intrahepatic cholestasis. https://app.cochat.ai/papers/10.1186/1750-1172-4-1
The paper
Davit-Spraul, A., Gonzales, E., Baussan, C., & Jacquemin, E. (2009). Progressive familial intrahepatic cholestasis. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/1750-1172-4-1

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.