Hepatitis Monthly

Published by: Kowsar

The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report

Haibing Gao 1 , 2 , 3 , Shenglong Lin 1 , 2 , 3 , Xujiang Lv 1 , 2 , 3 , Huaxi Ma 1 , 2 , 3 , Xiangmei Wang 1 , 2 , 3 , Jiankai Fang 1 , 2 , 3 , Wenjun Wu 1 , 2 , 3 , Jiahuang Lin 1 , 2 , 3 , Xiumin Chen 1 , 2 , 3 and Minghua Lin 1 , 2 , 3 , *
Authors Information
1 Mengchao Hepatobiliary Hospital of Fujian Medical University, Fujian, China
2 Fuzhou infectious Diseases Hospital, Fujian, China
3 Infectious Diseases Hospital of Fujian Medical University, Fujian, China
Article information
  • Hepatitis Monthly: October 2017, 17 (10); e55087
  • Published Online: October 15, 2017
  • Article Type: Case Report
  • Received: February 23, 2017
  • Revised: July 18, 2017
  • Accepted: August 5, 2017
  • DOI: 10.5812/hepatmon.55087

To Cite: Gao H, Lin S, Lv X, Ma H, Wang X, et al. The Identification of Two New ABCB11 Gene Mutations and the Treatment Outcome in a Young Adult with Benign Recurrent Intrahepatic Cholestasis: A Case Report, Hepat Mon. 2017 ; 17(10):e55087. doi: 10.5812/hepatmon.55087.

Copyright © 2017, Hepatitis Monthly. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Report
3. Discussion
  • 1. Brenard R, Geubel AP, Benhamou JP. Benign recurrent intrahepatic cholestasis. A report of 26 cases. J Clin Gastroenterol. 1989; 11(5): 546-51[PubMed]
  • 2. Folvik G, Hilde O, Helge GO. Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. Scand J Gastroenterol. 2012; 47(4): 482-8[DOI][PubMed]
  • 3. de Pagter AG, van Berge Henegouwen GP, ten Bokkel Huinink JA, Brandt KH. Familial benign recurrent intrahepatic cholestasis. Interrelation with intrahepatic cholestasis of pregnancy and from oral contraceptives? Gastroenterology. 1976; 71(2): 202-7[PubMed]
  • 4. van der Woerd WL, Houwen RH, van de Graaf SF. Current and future therapies for inherited cholestatic liver diseases. World J Gastroenterol. 2017; 23(5): 763-75[DOI][PubMed]
  • 5. Mezey E, Burns C, Burdick JF, Braine HG. A case of severe benign intrahepatic cholestasis treated with liver transplantation. Am J Gastroenterol. 2002; 97(2): 475-7[DOI][PubMed]
  • 6. Luketic VA, Shiffman ML. Benign recurrent intrahepatic cholestasis. Clin Liver Dis. 1999; 3(3): 509-28[PubMed]
  • 7. 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)[DOI][PubMed]
  • 8. van Ooteghem NAM, Klomp LWJ, van Berge-Henegouwen GP, Houwen RHJ. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol. 2002; 36(3): 439-43[DOI]
  • 9. Folmer DE, van der Mark VA, Ho-Mok KS, Oude Elferink RP, Paulusma CC. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Hepatology. 2009; 50(5): 1597-605[DOI][PubMed]
  • 10. Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol. 2014; 4(1): 25-36[DOI][PubMed]
  • 11. 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(5)-16[DOI][PubMed]
  • 12. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004; 40(1): 27-38[DOI][PubMed]
  • 13. Blackmore L, Knisely AS, Hartley JL, McKay K, Gissen P, Marcus R, et al. Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma. J Clin Exp Hepatol. 2013; 3(2): 159-61[DOI][PubMed]
  • 14. Painter JN, Savander M, Ropponen A, Nupponen N, Riikonen S, Ylikorkala O, et al. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet. 2005; 13(4): 435-9[DOI][PubMed]
  • 15. Wu J, Jiang R. Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases. ScientificWorldJournal. 2013; 2013: 675851[DOI][PubMed]
  • 16. Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, et al. Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Hepatology. 2009; 49(2): 553-67[DOI][PubMed]
  • 17. Dixon PH, van Mil SW, Chambers J, Strautnieks S, Thompson RJ, Lammert F, et al. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut. 2009; 58(4): 537-44[DOI][PubMed]
  • 18. Beausejour Y, Alvarez F, Beaulieu M, Bilodeau M. Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family. Can J Gastroenterol. 2011; 25(6): 311-4[PubMed]
  • 19. Ze XY, Zhao XY, Jiang J, Jia JD, Wang TL, Wang BE. Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis. Chin Med J (Engl). 2013; 126(24): 4802-3[PubMed]
  • 20. Duan N, Kravitz RL, Schmid CH. Single-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness research. J Clin Epidemiol. 2013; 66(8 Suppl)-8[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:



Create Citiation Alert
via Google Reader

Readers' Comments