Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene |
Lee, Yun Seok
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Kim, Mi Jin (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Ki, Chang Seok (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Lee, Yoo Min (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Lee, Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) Choe, Yon Ho (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) |
1 | Tygstrup N, Steig BA, Juijn JA, Bull LN, Houwen RH. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology 1999;29:506-8. |
2 | Mezey E, Burns C, Burdick JF, Braine HG. A case of severe benign intrahepatic cholestasis treated with liver transplantation. Am J Gastroenterol 2002;97:475-7. |
3 | van Mil SW, Klomp LW, Bull LN, Houwen RH. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001;21:535-44. |
4 | van Ooteghem NA, Klomp LW, van Berge-Henegouwen GP, Houwen RH. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol 2002;36:439-43. |
5 | van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004;127:379-84. |
6 | Folvik G, Hilde O, Helge GO. Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. Scand J Gastroenterol 2012;47:482-8. |
7 | Kim OY, Sung BY, Kowg GD, Yoon HS, Shin YM, Oh HT, et al. A case of nonfamilial benign recurrent intrahepatic cholestasis. Korean J Hepatol 1998;4: 188-93. |
8 | Ko JS, Seo JK. The etiologies of neonatal cholestasis. Korean J Pediatr 2007;50:835-40. |
9 | 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. |
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. |
11 | 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. |
12 | Summerskill WH, Walshe JM. Benign recurrent intrahepatic "obstructive" jaundice. Lancet 1959;2:686-90. |
13 | Tygstrup N, Jensen B. Intermittent intrahepatic cholestasis of unknown etiology in five young males from the Faroe Islands. Acta Med Scand 1969;185:523-30. |
14 | Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, et al. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 1994;8:380-6. |
15 | 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. |
16 | Stapelbroek JM, van Erpecum KJ, Klomp LW, Houwen RH. Liver disease associated with canalicular transport defects: current and future therapies. J Hepatol 2010;52:258-71. |
17 | Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 2009;4:1. |
18 | Bull LN, Juijn JA, Liao M, van Eijk MJ, Sinke RJ, Stricker NL, et al. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC. Hum Genet 1999;104:241-8. |
19 | Liu LY, Wang XH, Wang ZL, Zhu QR, Wang JS. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. J Pediatr Gastroenterol Nutr 2010;50:179-83. |