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2017, Número 3

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Ann Hepatol 2017; 16 (3)


A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2

Waisbourd-Zinman O, Surrey LF, Schwartz AE, Russo PA, Wen J

Idioma: Ingles.
Referencias bibliográficas: 14
Paginas: 465-468
Archivo PDF: 3274.61 Kb.


RESUMEN

Sin resumen.


REFERENCIAS (EN ESTE ARTÍCULO)

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  2. Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. Semin Liver Dis 2010; 30: 134-46. doi: 10.1055/s-0030-1253223.

  3. Arnell H, Bergdahl S, Papadogiannakis N, Nemeth A, Fischler B. Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis. J Pediatr Surg 2008; 43: 1312-20. doi: 10.1016/j.jpedsurg.2007.10.055.

  4. Jacquemin E, Hermans D, Myara A, Habes D, Debray D, Hadchouel M, Sokal EM, et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997; 25: 519-23. doi: 10.1002/ hep.510250303.

  5. Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol 2014; 4: 25-36. doi: 10.1016/j.jceh.2013. 10.005.

  6. Trauner M, Meier PJ, Boyer JL. Molecular pathogenesis of cholestasis. N Engl J Med 1998; 339: 1217-27. doi: 10. 1056/nejm199810223391707.

  7. Evason K, Bove KE, Finegold MJ, Knisely AS, Rhee S, Rosenthal P, Miethke AG, et al. Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies. Am J Surg Pathol 2011; 35: 687-96. doi: 10.1097/ PAS.0b013e318212ec87.

  8. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol 2010; 53: 170-8. doi: 10.1016/ j.jhep.2010.01.034.

  9. Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzáles E, Stieger B, Bernard O, 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: 1645-55. doi: 10.1002/hep.23539.

  10. 10. van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH. Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. Best Pract Res Clin Gastroenterol 2010; 24: 541-53. doi: 10.1016/j.bpg.2010.07.010.

  11. http://evs.gs.washington.edu/EVS/. Available at: URL.

  12. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405-24. doi: 10.1038/gim.2015.30.

  13. Martinez MA, Vuppalanchi R, Fontana RJ, Stolz A, Kleiner DE, Hayashi PH, Gu J, et al. Clinical and histologic features of azithromycin-induced liver injury. Clin Gastroenterol Hepatol 2015; 13: 369-376.e3. doi: 10.1016/j.cgh.2014. 07.054.

  14. Summerfield JA, Scott J, Berman M, Ghent C, Bloomer JR, Berk PD, Sherlock S. Benign recurrent intrahepatic cholestasis: studies of bilirubin kinetics, bile acids, and cholangiography. Gut 1980; 21: 154-60.




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