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Volumn 103, Issue 1, 1999, Pages 52-57

Clinical and genetic risk factors for cystic fibrosis-related liver disease

Author keywords

Cystic fibrosis; Genotype; Liver disease; Phenotype; Risk factors

Indexed keywords

BILIRUBIN; LIVER ENZYME;

EID: 0032975778     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.103.1.52     Document Type: Article
Times cited : (113)

References (34)
  • 2
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-1080
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 3
    • 0025241696 scopus 로고
    • The relationship between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation ΔF508
    • Kerem E, Corey M, Kerem B, et al. The relationship between genotype and phenotype in cystic fibrosis: analysis of the most common mutation ΔF508). N Engl J Med. 1990;323:1517-1522
    • (1990) N Engl J Med. , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.3
  • 4
    • 0028033069 scopus 로고
    • Population variations of common cystic fibrosis mutations
    • Cystic Fibrosis Genetic Analysis Consortium. Population variations of common cystic fibrosis mutations. Hum Mutat. 1994;4:167-177
    • (1994) Hum Mutat. , vol.4 , pp. 167-177
  • 5
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med. 1993;329:1308-1313
    • (1993) N Engl J Med. , vol.329 , pp. 1308-1313
  • 6
    • 8244257360 scopus 로고    scopus 로고
    • A CFTR splice variant with partial penetrance associated with variable cystic fibrosis presentation
    • Kerem E, Rave-Harel N, Augarten, et al. A CFTR splice variant with partial penetrance associated with variable cystic fibrosis presentation. Am J Respir Crit Care Med. 1997;155:1914-1920
    • (1997) Am J Respir Crit Care Med. , vol.155 , pp. 1914-1920
    • Kerem, E.1    Rave-Harel, N.2    Augarten3
  • 7
    • 0031219150 scopus 로고    scopus 로고
    • A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype
    • Kerem E, Nissim-Rafinia M, Argaman Z, et al. A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype. Pediatrics. 1997;100:1-6
    • (1997) Pediatrics , vol.100 , pp. 1-6
    • Kerem, E.1    Nissim-Rafinia, M.2    Argaman, Z.3
  • 8
    • 0028212786 scopus 로고
    • Analysis of risk factors for the development of liver disease in CF
    • Colombo C, Apostolo MG, Ferrari M, et al. Analysis of risk factors for the development of liver disease in CF. J Pediatr. 1994;124:393-396
    • (1994) J Pediatr. , vol.124 , pp. 393-396
    • Colombo, C.1    Apostolo, M.G.2    Ferrari, M.3
  • 9
    • 0020314517 scopus 로고
    • Hepatobiliary disease in cystic fibrosis: Survey of current issues and concepts
    • Roy CC, Weber AM, Morin CL, et al. Hepatobiliary disease in cystic fibrosis: survey of current issues and concepts. J Pediatr Gastoenterol Nutr. 1982;1:469-478
    • (1982) J Pediatr Gastoenterol Nutr. , vol.1 , pp. 469-478
    • Roy, C.C.1    Weber, A.M.2    Morin, C.L.3
  • 10
    • 0025782271 scopus 로고
    • Prevalence of liver disease in cystic fibrosis
    • Scott-Jupp R, Lama M, Tanner MS. Prevalence of liver disease in cystic fibrosis. Arch Dis Child. 1991;66:698-701
    • (1991) Arch Dis Child. , vol.66 , pp. 698-701
    • Scott-Jupp, R.1    Lama, M.2    Tanner, M.S.3
  • 11
    • 0003625836 scopus 로고    scopus 로고
    • Bethesda, MD: Cystic Fibrosis Foundation; August
    • Cystic Fibrosis Foundation. Patient Registry 1996 Annual Data Report. Bethesda, MD: Cystic Fibrosis Foundation; August 1997
    • (1997) Patient Registry 1996 Annual Data Report
  • 13
    • 0001305310 scopus 로고
    • A distinctive type of biliary cirrhosis of the liver associated with cystic fibrosis of the pancreas
    • Di Sant' Agnese PA, Blanc WA. A distinctive type of biliary cirrhosis of the liver associated with cystic fibrosis of the pancreas. Pediatrics. 1956; 188:387-409
    • (1956) Pediatrics , vol.188 , pp. 387-409
    • Di Sant' Agnese, P.A.1    Blanc, W.A.2
  • 14
    • 0026513466 scopus 로고
    • Genotype analysis of DF508, G551D, R553X mutations in children and adults with cystic fibrosis with and without liver disease
    • Duthie A, Doherty DG, Williams C, et al. Genotype analysis of DF508, G551D, R553X mutations in children and adults with cystic fibrosis with and without liver disease. Hepatology. 1992;15:660-664
    • (1992) Hepatology , vol.15 , pp. 660-664
    • Duthie, A.1    Doherty, D.G.2    Williams, C.3
  • 15
    • 0031292686 scopus 로고    scopus 로고
    • Cystic fibrosis in Jews: Frequency and mutation distribution
    • Kerem B, Chiba-Falik O, Kerem E. Cystic fibrosis in Jews: frequency and mutation distribution. Genet Testing. 1997;1:35-39
    • (1997) Genet Testing , vol.1 , pp. 35-39
    • Kerem, B.1    Chiba-Falik, O.2    Kerem, E.3
  • 16
    • 0029019611 scopus 로고
    • Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
    • Kerem E, Kalman YM, Yahav Y, et al. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet. 1995;96:193-197
    • (1995) Hum Genet. , vol.96 , pp. 193-197
    • Kerem, E.1    Kalman, Y.M.2    Yahav, Y.3
  • 18
    • 0013954612 scopus 로고
    • Standards from birth to maturity for height, weight, height velocity and weight velocity: British children, 1965
    • Tanner JM, Whitehouse RH, Takaishi M. Standards from birth to maturity for height, weight, height velocity and weight velocity: British children, 1965. Arch Dis Child. 1966;41:454-471
    • (1966) Arch Dis Child. , vol.41 , pp. 454-471
    • Tanner, J.M.1    Whitehouse, R.H.2    Takaishi, M.3
  • 19
    • 0028086056 scopus 로고
    • A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
    • Highsmith WE, Lauraneli H, Burch MS, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 1994;331:974-980
    • (1994) N Engl J Med. , vol.331 , pp. 974-980
    • Highsmith, W.E.1    Lauraneli, H.2    Burch, M.S.3
  • 20
    • 0027278161 scopus 로고
    • Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10kb C->T mutation
    • Augarten A, Kerem B, Yahav Y, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10kb C->T mutation. Lancet. 1993;342:25-26
    • (1993) Lancet , vol.342 , pp. 25-26
    • Augarten, A.1    Kerem, B.2    Yahav, Y.3
  • 21
    • 0027395872 scopus 로고
    • The changing epidemiology of cystic fibrosis
    • FitzSimmons SC. The changing epidemiology of cystic fibrosis. J Pediatr. 1993;122:1-9
    • (1993) J Pediatr. , vol.122 , pp. 1-9
    • FitzSimmons, S.C.1
  • 23
    • 0026584970 scopus 로고
    • Scintigraphic documentation of an improvement in hepatobiliary excretory function after treatment with ursodeoxycholic acid in patients with cystic fibrosis and associated liver disease
    • Colombo C, Castellani MR, Balistreri WF, Seregni E, Assaisso ML, Guinta A. Scintigraphic documentation of an improvement in hepatobiliary excretory function after treatment with ursodeoxycholic acid in patients with cystic fibrosis and associated liver disease. Hepatology. 1992;15:677-684
    • (1992) Hepatology , vol.15 , pp. 677-684
    • Colombo, C.1    Castellani, M.R.2    Balistreri, W.F.3    Seregni, E.4    Assaisso, M.L.5    Guinta, A.6
  • 24
    • 0030995026 scopus 로고    scopus 로고
    • Prediction of liver fibrosis according to serum collagen VI level in children with cystic fibrosis
    • Gerling B, Becker M, Staab D, Schuppan D. Prediction of liver fibrosis according to serum collagen VI level in children with cystic fibrosis. N Engl J Med. 1997;36:1611-1612
    • (1997) N Engl J Med. , vol.36 , pp. 1611-1612
    • Gerling, B.1    Becker, M.2    Staab, D.3    Schuppan, D.4
  • 25
    • 0024319639 scopus 로고
    • Meconium ileus and its equivalent as a risk factor for the development of cirrhosis: An autopsy study in cystic fibrosis
    • Maurage C, Lenaerts C, Weber AM, Brochu P, Yousef I, Roy CC. Meconium ileus and its equivalent as a risk factor for the development of cirrhosis: an autopsy study in cystic fibrosis. J Pediatr Gastroenterol Nutr. 1989;9:17-20
    • (1989) J Pediatr Gastroenterol Nutr. , vol.9 , pp. 17-20
    • Maurage, C.1    Lenaerts, C.2    Weber, A.M.3    Brochu, P.4    Yousef, I.5    Roy, C.C.6
  • 27
    • 13344282728 scopus 로고    scopus 로고
    • Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
    • Rozmahel R, Wilschanski M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genet. 1996;12:280-287
    • (1996) Nature Genet. , vol.12 , pp. 280-287
    • Rozmahel, R.1    Wilschanski, M.2    Matin, A.3
  • 28
    • 0029869364 scopus 로고    scopus 로고
    • In vivo measurements of ion transport in long-living CF mice
    • Wilschanski M, Rozmahel R, Beharry S, et al. In vivo measurements of ion transport in long-living CF mice. Biochem Biophys Res Comm. 1996; 219:753-759
    • (1996) Biochem Biophys Res Comm. , vol.219 , pp. 753-759
    • Wilschanski, M.1    Rozmahel, R.2    Beharry, S.3
  • 29
    • 0031037337 scopus 로고    scopus 로고
    • The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
    • Rave-Harel N, Kerem E, Nissim-Rafinia M, et al. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet. 1997;60:87-94
    • (1997) Am J Hum Genet. , vol.60 , pp. 87-94
    • Rave-Harel, N.1    Kerem, E.2    Nissim-Rafinia, M.3
  • 30
    • 0025820979 scopus 로고
    • Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene
    • Dork T, Wulbrand U, Richter T, et al. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Hum Genet. 1991;87:441-446
    • (1991) Hum Genet. , vol.87 , pp. 441-446
    • Dork, T.1    Wulbrand, U.2    Richter, T.3
  • 31
    • 0027521663 scopus 로고
    • A mutation in CFTR produces different phenotypes depending on chromosomal background
    • Kiesewetter S, Macek M Jr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet. 1993;5:274-278
    • (1993) Nature Genet. , vol.5 , pp. 274-278
    • Kiesewetter, S.1    Macek M., Jr.2    Davis, C.3
  • 32
    • 0024998297 scopus 로고
    • Effects of ursodeoxycholic acid therapy for liver disease associated with cystic fibrosis
    • Colombo C, Setchell KDR, Podda M, et al. Effects of ursodeoxycholic acid therapy for liver disease associated with cystic fibrosis. J Pediatr. 1990;117:482-489
    • (1990) J Pediatr. , vol.117 , pp. 482-489
    • Colombo, C.1    Setchell, K.D.R.2    Podda, M.3
  • 33
    • 0025180712 scopus 로고
    • Effects of ursodeoxycholic acid treatment on nutrition and liver function in patients with cystic fibrosis and longstanding cholestasis
    • Cutting J, Lentze MJ, Reichen J. Effects of ursodeoxycholic acid treatment on nutrition and liver function in patients with cystic fibrosis and longstanding cholestasis. Gut. 1990;31:918-921
    • (1990) Gut , vol.31 , pp. 918-921
    • Cutting, J.1    Lentze, M.J.2    Reichen, J.3
  • 34
    • 0026718322 scopus 로고
    • Effects of ursodeoxycholic acid on liver function in patients with cystic fibrosis and chronic cholestasis
    • Galabert C, Montet JC, Lengrand D, et al. Effects of ursodeoxycholic acid on liver function in patients with cystic fibrosis and chronic cholestasis. J Pediatr. 1992;121:138-141
    • (1992) J Pediatr. , vol.121 , pp. 138-141
    • Galabert, C.1    Montet, J.C.2    Lengrand, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.