참고문헌
- Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009;4:1. https://doi.org/10.1186/1750-1172-4-1
- Cavestro GM, Frulloni L, Cerati E, Ribeiro LA, Corrente V, Sianesi M, et al. Progressive familial intrahepatic cholestasis. Acta Biomed 2002;73:53-6.
- Amer S, Hajira A. A comprehensive review of progressive familial intrahepatic cholestasis (PFIC): genetic disorders of hepatocanalicular transporters. Gastroenterology Res 2014;7:39-43.
- Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol 2014;4:25-36. https://doi.org/10.1016/j.jceh.2013.10.005
- Gaur K, Sakhuja P. Progressive familial intrahepatic cholestasis: a comprehensive review of a challenging liver disease. Indian J Pathol Microbiol 2017;60:2-7.
- 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;51:1645-55. https://doi.org/10.1002/hep.23539
- Arnell H, Nemeth A, Anneren G, Dahl N. Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22. Hum Genet 1997;100:378-81. https://doi.org/10.1007/s004390050519
- Chen HL, Chang PS, Hsu HC, Ni YH, Hsu HY, Lee JH, et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr 2002;140:119-24. https://doi.org/10.1067/mpd.2002.119993
- Hori T, Egawa H, Takada Y, Ueda M, Oike F, Ogura Y, et al. Progressive familial intrahepatic cholestasis: a single-center experience of living-donor liver transplantation during two decades in Japan. Clin Transplant 2011;25:776-85. https://doi.org/10.1111/j.1399-0012.2010.01368.x
- Numakura C, Abukawa D, Kimura T, Tanabe S, Hayasaka K. A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1. Pediatr Int 2011;53:107-10. https://doi.org/10.1111/j.1442-200X.2010.03238.x
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, 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. https://doi.org/10.1038/gim.2015.30
- Lykavieris P, van Mil S, Cresteil D, Fabre M, Hadchouel M, Klomp L, et al. 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;39:447-52. https://doi.org/10.1016/S0168-8278(03)00286-1
- Luketic VA, Shiffman ML. Benign recurrent intrahepatic cholestasis. Clin Liver Dis 1999;3:509-28, viii. https://doi.org/10.1016/S1089-3261(05)70083-0
- 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;40:27-38. https://doi.org/10.1002/hep.20285
- Paulusma CC, Elferink RP, Jansen PL. Progressive familial intrahepatic cholestasis type 1. Semin Liver Dis 2010;30:117-24. https://doi.org/10.1055/s-0030-1253221
- Maillette de Buy Wenniger L, Beuers U. Bile salts and cholestasis. Dig Liver Dis 2010;42:409-18. https://doi.org/10.1016/j.dld.2010.03.015
- Sharma A, Poddar U, Agnihotry S, Aggarwal R. A novel truncation mutation in ATP8B1 gene in progressive familial intrahepatic cholestasis. Indian Pediatr 2016;53:1099-101.
- Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-24. https://doi.org/10.1038/ng0398-219
- Deng BC, Lv S, Cui W, Zhao R, Lu X, Wu J, et al. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. World J Gastroenterol 2012;18:6504-9. https://doi.org/10.3748/wjg.v18.i44.6504
- Mullenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 2005;54:829-34. https://doi.org/10.1136/gut.2004.058115
- Alvarez L, Jara P, Sanchez-Sabate E, Hierro L, Larrauri J, Diaz MC, et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 2004;13:2451-60. https://doi.org/10.1093/hmg/ddh261
- Jacquemin E, Hermans D, Myara A, Habes D, Debray D, Hadchouel M, et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997;25:519-23. https://doi.org/10.1002/hep.510250303
- Aydogdu S, Cakir M, Arikan C, Tumgor G, Yuksekkaya HA, Yilmaz F, et al. Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth. Pediatr Transplant 2007;11:634-40. https://doi.org/10.1111/j.1399-3046.2007.00722.x
- 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 Transpl 2002;8:714-6. https://doi.org/10.1053/jlts.2002.34384
- 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;31:3-10. https://doi.org/10.1055/s-0031-1272831
피인용 문헌
- Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report vol.12, pp.12, 2019, https://doi.org/10.7759/cureus.12226