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Volumn 14, Issue 6, 1999, Pages 594-599

Progressive familial intrahepatic cholestasis

Author keywords

Biliary diversion; Byler disease; Children; Genetic cholestasis; Ursodeoxycholic acid

Indexed keywords

GAMMA GLUTAMYLTRANSFERASE; URSODEOXYCHOLIC ACID;

EID: 0033013690     PISSN: 08159319     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1746.1999.01921.x     Document Type: Article
Times cited : (44)

References (32)
  • 1
    • 0014442684 scopus 로고
    • Byler disease: Fatal familial intrahepatic cholestasis in an Amish kindred
    • 1 Clayton RJ, Iber FI, Ruebner BH et al. Byler disease: Fatal familial intrahepatic cholestasis in an Amish kindred. Am. J. Dis. Child. 1969; 117: 112-24.
    • (1969) Am. J. Dis. Child. , vol.117 , pp. 112-124
    • Clayton, R.J.1    Iber, F.I.2    Ruebner, B.H.3
  • 2
    • 0023176550 scopus 로고
    • Normal serum γ-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis
    • 2 Maggiore G, Bernard O, Riely C et al. Normal serum γ-glutamyl-transpeptidase activity identifies groups of infants with idiopathic cholestasis with poor prognosis. J. Pediatr. 1987; 111: 251-2.
    • (1987) J. Pediatr. , vol.111 , pp. 251-252
    • Maggiore, G.1    Bernard, O.2    Riely, C.3
  • 3
    • 0028107618 scopus 로고
    • Clinical and biochemical findings in progressive familial intrahepatic cholestasis
    • 3 Whitington PF, Freese DK, Alonso EM et al. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J. Pediatr. Gastroenterol. Nutr. 1994; 18: 134-41.
    • (1994) J. Pediatr. Gastroenterol. Nutr. , vol.18 , pp. 134-141
    • Whitington, P.F.1    Freese, D.K.2    Alonso, E.M.3
  • 4
    • 0028303784 scopus 로고
    • Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease)
    • 4 Jacquemin E, Dumont M, Bernard O et al. Evidence for defective primary bile acid secretion in children with progressive familial intrahepatic cholestasis (Byler disease). Eur. J. Pediatr. 1994; 153: 424-8.
    • (1994) Eur. J. Pediatr. , vol.153 , pp. 424-428
    • Jacquemin, E.1    Dumont, M.2    Bernard, O.3
  • 6
    • 0029038668 scopus 로고
    • Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
    • 6 Carlton V, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum. Mol. Genet. 1995; 4: 1049-53.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1049-1053
    • Carlton, V.1    Knisely, A.S.2    Freimer, N.B.3
  • 7
    • 0030869696 scopus 로고    scopus 로고
    • Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24
    • 7 Strautnieks SS, Kagalwalla AF, Tanner MS et al. Identification of a locus for progressive familial intrahepatic cholestasis (PFIC2) on chromosome 2q24. Am. J. Hum. Genet. 1997; 61: 630-3.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 630-633
    • Strautnieks, S.S.1    Kagalwalla, A.F.2    Tanner, M.S.3
  • 8
    • 0031907132 scopus 로고    scopus 로고
    • A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
    • 8 Bull LN, Van Eijk MJT, Pawlikowska L et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat. Genet. 1998; 18: 219-24.
    • (1998) Nat. Genet. , vol.18 , pp. 219-224
    • Bull, L.N.1    Van Eijk, M.J.T.2    Pawlikowska, L.3
  • 9
    • 0000394966 scopus 로고    scopus 로고
    • The canalicular bile salt exporting protein BSEP is not expressed in patients with progressive familial intrahepatic cholestasis type 2
    • 9 Jansen P, Hooiveld G, Jacquemin E et al. The canalicular bile salt exporting protein BSEP is not expressed in patients with progressive familial intrahepatic cholestasis type 2. Hepatology 1998; 28: 498A.
    • (1998) Hepatology , vol.28
    • Jansen, P.1    Hooiveld, G.2    Jacquemin, E.3
  • 10
    • 0040284751 scopus 로고    scopus 로고
    • Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
    • 10 De Vree JML, Jacquemin E, Sturm E et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc. Natl Acad. Sci. USA 1998; 95: 282-7.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 282-287
    • De Vree, J.M.L.1    Jacquemin, E.2    Sturm, E.3
  • 12
    • 0032540277 scopus 로고    scopus 로고
    • The sister of p-glycoprotein represents the canalicular bile salt export pump of mammalian liver
    • 12 Gerloff T, Stieger B, Hagenbuch B et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J. Biol. Chem. 1998; 273: 10046-50.
    • (1998) J. Biol. Chem. , vol.273 , pp. 10046-10050
    • Gerloff, T.1    Stieger, B.2    Hagenbuch, B.3
  • 13
    • 17344366172 scopus 로고    scopus 로고
    • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
    • 13 Strautnieks SS, Bull LN, Knisely AS et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat. Genet. 1998; 20: 233-8.
    • (1998) Nat. Genet. , vol.20 , pp. 233-238
    • Strautnieks, S.S.1    Bull, L.N.2    Knisely, A.S.3
  • 14
    • 0027363563 scopus 로고
    • Homozygous disruption of the murine mdr2 p-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease
    • 14 Smit JJM, Shinkel AH, Oude Elferink RPJ et al. Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease. Cell 1993; 75: 451-62.
    • (1993) Cell , vol.75 , pp. 451-462
    • Smit, J.J.M.1    Shinkel, A.H.2    Oude Elferink, R.P.J.3
  • 15
    • 0027969948 scopus 로고
    • The human MDR3 p-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice
    • 15 Smith AJ, Timmermans-Hereijgers JLPM, Roelofsen B et al. The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice. FEBS Lett. 1994; 354: 263-6.
    • (1994) FEBS Lett. , vol.354 , pp. 263-266
    • Smith, A.J.1    Timmermans-Hereijgers, J.L.P.M.2    Roelofsen, B.3
  • 16
    • 0028307550 scopus 로고
    • Phosphatidylcholine translocase: A physiological role for the MDR2 gene
    • 16 Reutz S, Gros P. Phosphatidylcholine translocase: A physiological role for the mdr2 gene. Cell 1994; 77: 1071-81.
    • (1994) Cell , vol.77 , pp. 1071-1081
    • Reutz, S.1    Gros, P.2
  • 17
    • 0028112934 scopus 로고
    • Tissue distribution of the human MDR3 P-glycoprotein
    • 17 Smit JJM, Shinkel AH, Mol CAAM et al. Tissue distribution of the human MDR3 P-glycoprotein. Lab. Invest. 1994; 71; 638-49.
    • (1994) Lab. Invest. , vol.71 , pp. 638-649
    • Smit, J.J.M.1    Shinkel, A.H.2    Mol, C.A.A.M.3
  • 18
    • 0025801867 scopus 로고
    • Structure of the human MDR3 gene and physical mapping of the human MDR locus
    • 18 Lincke CR, Smit JJM, Van Der Velde-KoertsT et al. Structure of the human MDR3 gene and physical mapping of the human MDR locus. J. Biol. Chem. 1991; 266: 5303-10.
    • (1991) J. Biol. Chem. , vol.266 , pp. 5303-5310
    • Lincke, C.R.1    Smit, J.J.M.2    Van der Velde-Koertst, T.3
  • 19
    • 0031879556 scopus 로고    scopus 로고
    • Hepatocyte-specific expression of the human MDR3 p-glycoprotein gene restores the biliary phosphatidylcholine excretion absent in Mdr2 (-/-) mice
    • 19 Smith AJ, De Vree JML, Ottenhoff R et al. Hepatocyte-specific expression of the human MDR3 P-glycoprotein gene restores the biliary phosphatidylcholine excretion absent in Mdr2 (-/-) mice. Hepatology 1998; 28: 530-6.
    • (1998) Hepatology , vol.28 , pp. 530-536
    • Smith, A.J.1    De Vree, J.M.L.2    Ottenhoff, R.3
  • 20
    • 0029990296 scopus 로고    scopus 로고
    • Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
    • 20 Deleuze JF, Jacquemin E, Dubuisson C et al. Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 1996; 23: 904-8.
    • (1996) Hepatology , vol.23 , pp. 904-908
    • Deleuze, J.F.1    Jacquemin, E.2    Dubuisson, C.3
  • 21
    • 0000693194 scopus 로고    scopus 로고
    • MDR3 deficiency: Progressive familial intrahepatic cholestasis (PFIC) due to MDR3 gene mutations
    • 21 Jaequemin E, De Vree JML, Cresteil D et al. MDR3 deficiency: Progressive familial intrahepatic cholestasis (PFIC) due to MDR3 gene mutations. Hepatology 1998; 28: 316A.
    • (1998) Hepatology , vol.28
    • Jaequemin, E.1    De Vree, J.M.L.2    Cresteil, D.3
  • 22
    • 0031049399 scopus 로고    scopus 로고
    • Ursodeoxycholic therapy in pediatric patients with progressive familial intrahepatic cholestasis
    • 22 Jacquemin E, Hermans D, Myara A et al. Ursodeoxycholic therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 1997; 25: 519-23.
    • (1997) Hepatology , vol.25 , pp. 519-523
    • Jacquemin, E.1    Hermans, D.2    Myara, A.3
  • 23
    • 0023878924 scopus 로고
    • Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis
    • 23 Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 1988; 95: 130-6.
    • (1988) Gastroenterology , vol.95 , pp. 130-136
    • Whitington, P.F.1    Whitington, G.L.2
  • 24
    • 0028811161 scopus 로고
    • Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease)
    • 24 Emond JC, Whitington PF. Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). J. Pediatr. Surg. 1995; 30: 1635-41.
    • (1995) J. Pediatr. Surg. , vol.30 , pp. 1635-1641
    • Emond, J.C.1    Whitington, P.F.2
  • 25
    • 0027406096 scopus 로고
    • Serum bile acids in primary biliary cirrhosis: Effect of ursodeoxycholic acid therapy
    • 25 Poupon RE, Chretien Y, Poupon R et al. Serum bile acids in primary biliary cirrhosis: Effect of ursodeoxycholic acid therapy. Hepatology 1993; 17: 599-604.
    • (1993) Hepatology , vol.17 , pp. 599-604
    • Poupon, R.E.1    Chretien, Y.2    Poupon, R.3
  • 26
    • 0027717484 scopus 로고
    • Ursodeoxycholic acid improves ethinyl estradiol induced-cholestasis in the rat
    • 26 Jacquemin E, Dumont M, Erlinger S. Ursodeoxycholic acid improves ethinyl estradiol induced-cholestasis in the rat. Eur. J. Clin. Invest. 1993; 23: 794-802.
    • (1993) Eur. J. Clin. Invest. , vol.23 , pp. 794-802
    • Jacquemin, E.1    Dumont, M.2    Erlinger, S.3
  • 28
    • 0026740735 scopus 로고
    • Effects of ursodeoxycholic acid in patients with intrahepatic cholestasis of pregnancy
    • 28 Palma J, Reyes H, Ribalta J et al. Effects of ursodeoxycholic acid in patients with intrahepatic cholestasis of pregnancy. Hepatology 1992; 15: 1043-7.
    • (1992) Hepatology , vol.15 , pp. 1043-1047
    • Palma, J.1    Reyes, H.2    Ribalta, J.3
  • 29
    • 0030012966 scopus 로고    scopus 로고
    • Effects of ursodeoxycholate and cholate feeding on liver disease in FVB mice with a disrupted mdr2 P-glycoprotein gene
    • 29 van Nieuwkerk CJM, Oude Elferink RPJ, Groen AK et al. Effects of ursodeoxycholate and cholate feeding on liver disease in FVB mice with a disrupted mdr2 P-glycoprotein gene. Gastroenterology 1996; 111: 165-71.
    • (1996) Gastroenterology , vol.111 , pp. 165-171
    • Van Nieuwkerk, C.J.M.1    Oude Elferink, R.P.J.2    Groen, A.K.3
  • 30
    • 0025205310 scopus 로고
    • Orthotopic liver transplantation for Byler disease
    • 30 Soubrane O, Gauthier F, Devictor D et al. Orthotopic liver transplantation for Byler disease. Transplantation 1990; 50: 804-6.
    • (1990) Transplantation , vol.50 , pp. 804-806
    • Soubrane, O.1    Gauthier, F.2    Devictor, D.3
  • 31
    • 0001336730 scopus 로고    scopus 로고
    • Rapid correction of mdr2 deficiency by transplantation of MDR3 transgenic hepatocytes
    • 31 de Vree JML, Ottenhof R, Smith AJ et al. Rapid correction of mdr2 deficiency by transplantation of MDR3 transgenic hepatocytes. Hepatology 1998, 28: 387A.
    • (1998) Hepatology , vol.28
    • De Vree, J.M.L.1    Ottenhof, R.2    Smith, A.J.3
  • 32
    • 0021351853 scopus 로고
    • Biliary proteins. Unique inhibitors of cholesterol crystal nucleation in human gallbladder bile
    • 32 Holzbach RT, Kibe A, Thiel E, Howell JH, Marsh M, Hermann RE. Biliary proteins. Unique inhibitors of cholesterol crystal nucleation in human gallbladder bile. J. Clin. Invest. 1984; 73: 35-45.
    • (1984) J. Clin. Invest. , vol.73 , pp. 35-45
    • Holzbach, R.T.1    Kibe, A.2    Thiel, E.3    Howell, J.H.4    Marsh, M.5    Hermann, R.E.6


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