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VOLUME 2 , ISSUE 2 ( April-June, 2020 ) > List of Articles

REVIEW ARTICLE

Progressive Familial Intrahepatic Cholestasis

Rajeev Khanna, Vipul Gautam

Citation Information : Khanna R, Gautam V. Progressive Familial Intrahepatic Cholestasis. Ann Pediatr Gastroenterol Hepatol 2020; 2 (2):1-20.

DOI: 10.5005/jp-journals-11009-0053

License: CC BY-NC 4.0

Published Online: 06-07-2022

Copyright Statement:  Copyright © 2020; The Author(s).


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  1. Bull LN, Thompson RJ. Progressive Familial Intrahepatic Cholestasis. Clin Liver Dis. 2018;22 (4):657-69.
  2. Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2012; 36(Suppl. 1):S26-35.
  3. Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol. 2014;4(1): 25-36.
  4. Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019;43(1): 20-36.
  5. Agarwal S, Lal BB, Rawat D, Rastogi A, Bharathy KG, Alam S. Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome. J Clin Exp Hepatol. 2016;6(3):203-208.
  6. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010;53(1):170-8.
  7. Sharma A, Poddar U, Agnihotry S, Phadke SR, Yachha SK, Aggarwal R. Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. BMC Gastroenterol. 2018;18(1):1-10.
  8. Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, et al. ATP8B1 and ABCB11 Analysis in 62 children with normal gamma-glutamyl transferase Progressive Familial Intrahepatic Cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history. Hepatology. 2010;51(5):1645-55.
  9. Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014;46(4):326-8.
  10. Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, et al. MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease. Hepatology. 2014;60(1):301-10.
  11. Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016;7:1-8.
  12. Kullak-Ublick GA, Stieger B, Meier PJ. Enterohepatic Bile Salt Transporters in Normal Physiology and Liver Disease. Gastroenterology. 2004;126 (1 SUPPL. 1): 322-42.
  13. Gupta NA, Karpen SJ, Feranchak AP, Suchy FJ, Sokol RJ, Sundaram SS, et al. Mechanisms of bile formation and cholestasis. Medical and Nutritional management of cholestasis in infants and children. Familial hepatocellular cholestasis. In: Suchy FJ, Sokol RJ, Balistreri WF, editors. Liver Disease in Children. 4th edition. New York: Cambridge University Press; 2014. p24-31, 111-139, 199-215.
  14. Sticova E, Jirsa M, Paw.owska J. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. Can J Gastroenterol Hepatol. 2018;2018.
  15. Beuers U, Trauner M, Jansen P, Poupon R. New paradigms in the treatment of hepatic cholestasis: from UDCA to FXR, PXR and beyond. J Hepatol. 2015;62 (1 Suppl): S25-S37.
  16. Sambrotta M, Thompson RJ. Mutations in TJP2, encoding zona occludens 2, and liver disease. Tissue Barriers. 2015;3(3):1-5.
  17. Beuers U, Kremer AE, Bolier R, Elferink RP. Pruritus in cholestasis: facts and fiction. Hepatology. 2014;60(1):399-407.
  18. Eppens EF, Van Mil SWC, De Vree JML, Mok KS, Juijn JA, Oude Elferink RPJ, et al. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol. 2001;35(4):436-43.
  19. Cai SY, Gautam S, Nguyen T, Soroka CJ, Rahner C, Boyer JL. ATP8B1 Deficiency Disrupts the Bile Canalicular Membrane Bilayer Structure in Hepatocytes, But FXR Expression and Activity Are Maintained. Gastroenterology. 2009;136(3):1060-1069.e4.
  20. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull LN, Knisely AS, et al. Progressive Familial Intrahepatic Cholestasis, Type 1, Is Associated with Decreased Farnesoid X Receptor Activity. Gastroenterology. 2004;126(3):756-64.
  21. Klomp LWJ, Vargas JC, Van Mil SWC, Pawlikowska L, Strautnieks SS, Van Eijk MJT, et al. Characterization of mutations in AT P8B1 associated with hereditary cholestasis. Hepatology. 2004;40(1):27-38.
  22. Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P. Genetics and molecular modeling of new mutations of familial intrahepatic cholestasis in a single Italian center. PLoS One. 2015;10(12):1-13.
  23. Morotti RA, Suchy FJ, Magid MS. Progressive familial intrahepatic cholestasis (PFIC) Type 1, 2, and 3: A review of the liver pathology findings. Semin Liver Dis. 2011;31(1):3-10.
  24. Meena BL, Khanna R, Bihari C, Rastogi A, Rawat D, Alam S. Bile duct paucity in childhood-spectrum, profile, and outcome. Eur J Pediatr. 2018;177(8):1261-1269.
  25. Soroka CJ, Boyer JL. Biosynthesis and trafficking of the bile salt export pump, BSEP: Therapeutic implications of BSEP mutations. Mol Aspects Med. 2014;37:3-14.
  26. Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008 Apr;134(4):1203-14.
  27. Van Wessel DBE, Thompson RJ, Gonzales E, et al. Genotype correlates with the natural history of severe bile salt export pump deficiency. J Hepatol. 2020;73(1):84-93.
  28. Bull LN, Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Dodge JL, et al. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies. Hepatol Commun. 2018;2(5):515-28.
  29. Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology. 2006 Aug;44(2):478-86.
  30. De Vree JML, Jacquemin E, Sturm E, Cresteil D, Bosma PJ, Aten J, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA. 1998;95(1):282-7.
  31. Park HJ, Kim TH, Kim SW, Noh SH, Cho KJ, Choi C, et al. Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. Sci Rep. 2016;6(February):1-9.
  32. Reichert MC, Lammert F. ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. Semin Liver Dis. 2018;38(4):299-307.
  33. Sundaram SS, Sokol RJ. The multiple facets of ABCB4 (MDR3) deficiency. Curr Treat Options Gastroenterol. 2007;10(6):495-503.
  34. Schatz SB, Jungst C, Keitel-Anselmo V, Kubitz R, Becker C, Gerner P, et al. Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. Hepatol Commun. 2018;2(5):504-14.
  35. Webb GJ, Elsharkawy AM, Hirschfield GM. Editorial: The etiology of intrahepatic cholestasis of pregnancy: Towards solving a monkey puzzle. Am J Gastroenterol. 2014;109(1):85-8.
  36. Dixon PH, Wadsworth CA, Chambers J, et al. A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy. Am J Gastroenterol. 2014;109(1):76-84.
  37. Grosse B, Cassio D, Yousef N, et al. Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability. Hepatology 2012;55(4):1249-59.
  38. Carlton VE, Harris BZ, Puffenberger EG, et al. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003;34(1):91-96.
  39. Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, et al. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Dec;62(6):1914-6.
  40. van IJzendoorn SCD, Li Q, Qiu Y, Wang J, Overeem AW. Unequal effects of MYO5B mutations in liver and intestine determine the clinical presentation of low-GGT cholestasis. Hepatology. 2020;0-2.
  41. Gonzales E, Taylor SA, Davit-Spraul A, Thébaut A, Thomassin N, Guettier C, et al. MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. Hepatology. 2017;65(1): 164-73.
  42. Qiu YL, Gong JY, Feng JY, Wang RX, Han J, Liu T, et al. Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis. Hepatology. 2017;65(5):1655-69.
  43. Cockar I, Foskett P, Strautnieks S, Clinch Y, Fustok J, Rahman O et al. Mutations in Myosin 5B (MYO5B) in Children with Early Onset Cholestasis. J Pediatr Gastroenterol Nutr. 2020. Published ahead of Print.
  44. Khanna R, Verma SK. Pediatric hepatocellular carcinoma. World J Gastroenterol. 2018;24 (35):3980-3999.
  45. Iannelli F, Collino A, Sinha S, Radaelli E, Nicoli P, D'Antiga L, et al. Massive gene amplification drives paediatric hepatocellular carcinoma caused by bile salt export pump deficiency. Nat Commun. 2014 May 13;5:3850.
  46. Chen Y, Song X, Valanejad L, Vasilenko A, More V, Qiu X, et al. Bile salt export pump is dysregulated with altered farnesoid X receptor isoform expression in patients with hepatocellular carcinoma. Hepatology. 2013 Apr;57(4):1530-41.
  47. Vij M, Shanmugam NP, Reddy MS, Govil S, Rela M. Hepatocarcinogenesis in multidrugresistant P-glycoprotein 3 deficiency. Pediatr Transplant. 2017 May;21(3).
  48. Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intra hepatic cholestasis. J Pediatr Gastroenterol Nutr. 1994;18(2):134-141.
  49. Englert C, Grabhorn E, Richter A, Rogiers X, Burdelski M, Ganschow R. Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation. 2007;84(10):1361-1363.
  50. Yang H, Porte RJ, Verkade HJ, De Langen ZJ, Hulscher JB. Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and Alagille disease. J Pediatr Gastroenterol Nutr. 2009;49(2):216-221.
  51. Erginel B, Soysal FG, Durmaz O, Celik A, Salman T. Long-term outcomes of six patients after partial internal biliary diversion for progressive familial intrahepatic cholestasis. J Pediatr Surg. 2018;53(3):468-471.
  52. Metzelder ML, Bottlander M, Melter M, Petersen C, Ure BM. Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: A new approach. Surg Endosc Other Interv Tech. 2005;19(12):1641-3.
  53. Van Der Woerd WL, Kokke FT, Van Der Zee DC, Houwen RH. Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome. J Pediatr Surg. 2015;50(11): 1846-9.
  54. Alrabadi LS, Morotti RA, Valentino PL, et al. Biliary drainage as treatment for allograft steatosis following liver transplantation for PFIC-1 disease: A single-center experience. Pediatric Transplantation. 2018 Jun;22(4): e13184. DOI: 10.1111/petr.13184.
  55. Miyagawa-Hayashino A, Egawa H, Yorifuji T, et al. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. Liver Transpl 2009;15(6):610-8.
  56. Maggiore G, Gonzales E, Sciveres M, Redon MJ, Grosse B, Stieger B, et al. Relapsing features of bile salt export pump deficiency after liver transplantation in two patients with progressive familial intrahepatic cholestasis type 2. J Hepatol. 2010;53(5):981-6.
  57. Keitel V, Burdelski M, Vojnisek Z, Schmitt L, Haussinger D, Kubitz R. De novo bile salt transporter antibodies as a possible cause of recurrent graft failure after liver transplantation: a novel mechanism of cholestasis. Hepatology. 2009;50(2):510-517.
  58. Lin HC, Alvarez L, Laroche G, Aldana HM, Pfeifer K, Schwarz K et al. Rituximab as Therapy for the Recurrence of Bile Salt Export Pump Deficiency After Liver Transplantation. Liver transplantation 2013;19:1403-1410.
  59. Nevens F, Andreone P, Mazzella G, et al. A Placebo-Controlled Trial of Obeticholic Acid in Primary Biliary Cholangitis. N Engl J Med. 2016;375(7):631-643.
  60. Corpechot C, Chazouilleres O, Rousseau A, et al. A Placebo-Controlled Trial of Bezafibrate in Primary Biliary Cholangitis. N Engl J Med. 2018;378(23):2171-2181.
  61. Harrison SA, Rossi SJ, Paredes AH, et al. NGM282 Improves Liver Fibrosis and Histology in 12 Weeks in Patients With Nonalcoholic Steatohepatitis. Hepatology. 2020;71(4):1198-1212.
  62. Shneider BL, Spino C, Kamath BM, et al. Placebo-Controlled Randomized Trial of an Intestinal Bile Salt Transport Inhibitor for Pruritus in Alagille Syndrome. Hepatol Commun. 2018;2(10):1184-1198.
  63. Pares A, Herrera M, Aviles J, Sanz M, Mas A. Treatment of resistant pruritus of cholestasis with albumin dialysis. Combined analysis of patients from three centers. J Hepatol. 2010; 53: 307-31.
  64. Decock S, Roelandts R, Steenbergen WV, et al. Cholestasis-induced pruritus treated with ultraviolet B phototherapy: an observational case series study. J Hepatol. 2012;57(3):637-641.
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