메뉴 건너뛰기




Volumn 25, Issue 5, 2010, Pages 1501-1506

An unusual cause of hypertension and renal failure: A case series of a family with Alagille syndrome

Author keywords

Alagille syndrome; Haemodialysis; Hypertension; Renal failure; Renal transplant

Indexed keywords

ANTIHYPERTENSIVE AGENT; CREATININE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; JAGGED1; UREA; VISUAL PIGMENT;

EID: 77951676607     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp692     Document Type: Article
Times cited : (13)

References (35)
  • 1
    • 0023148932 scopus 로고
    • Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases
    • DOI 10.1016/S0022-3476(87)80153-1
    • Alagille D, Estrada A, Hadchouel M, et al. Syndromic paucity of in-terlobular bile ducts (Alagille syndrome or arteriohepaticdysplasia): review of 80 cases. J Pediatr 1987; 110: 195-200 (Pubitemid 17016845)
    • (1987) Journal of Pediatrics , vol.110 , Issue.2 , pp. 195-200
    • Alagille, D.1    Estrada, A.2    Hadchouel, M.3
  • 5
    • 33646344977 scopus 로고    scopus 로고
    • Jagged1 (JAG1) mutations in Alagille syndrome: Increasing the mutation detection rate
    • Warthen DM, Moore EC, Kamath BM, et al. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat 2006; 27: 436-443
    • (2006) Hum Mutat , vol.27 , pp. 436-443
    • Warthen, D.M.1    Moore, E.C.2    Kamath, B.M.3
  • 6
    • 4344673276 scopus 로고    scopus 로고
    • Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome
    • DOI 10.1007/s00335-004-2389-x
    • Fischer A, Klamt B, Schumacher N, et al. Phenotypic variability in Hey2-/-mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome. Mamm Genome 2004; 15: 711-716 (Pubitemid 39159196)
    • (2004) Mammalian Genome , vol.15 , Issue.9 , pp. 711-716
    • Fischer, A.1    Klamt, B.2    Schumacher, N.3    Glaeser, C.4    Hansmann, I.5    Fenge, H.6    Gessler, M.7
  • 8
    • 0036808221 scopus 로고    scopus 로고
    • Piccoli Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance
    • Kamath BM, Krantz ID, Spinner NB, et al. Piccoli Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. Am J Med Genet 2002; 112: 194-197
    • (2002) Am J Med Genet , vol.112 , pp. 194-197
    • Kamath, B.M.1    Krantz, I.D.2    Spinner, N.B.3
  • 10
    • 0033839965 scopus 로고    scopus 로고
    • JAGGED1 gene expression during human embryogenesis elucidates the wide phe-notypic spectrum of Alagille syndrome
    • Crosnier C, Attié-Bitach T, Encha-Razavi F, et al. JAGGED1 gene expression during human embryogenesis elucidates the wide phe-notypic spectrum of Alagille syndrome. Hepatology 2000; 32: 574-581
    • (2000) Hepatology , vol.32 , pp. 574-581
    • Crosnier, C.1    Attié-Bitach, T.2    Encha-Razavi, F.3
  • 11
    • 0035203709 scopus 로고    scopus 로고
    • Alagille syndrome and the Jagged1 gene
    • Piccoli DA, Spinner NB. Alagille syndrome and the Jagged1 gene. Semin Liver Dis 2001; 21: 525-534
    • (2001) Semin Liver Dis , vol.21 , pp. 525-534
    • Piccoli, D.A.1    Spinner, N.B.2
  • 15
    • 5444242184 scopus 로고    scopus 로고
    • Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants
    • DOI 10.1101/gad.1239204
    • Krebs LT, Shutter JR, Tanigaki K, et al. Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants. Genes Dev 2004; 18: 2469-2473 (Pubitemid 39362888)
    • (2004) Genes and Development , vol.18 , Issue.20 , pp. 2469-2473
    • Krebs, L.T.1    Shutter, J.R.2    Tanigaki, K.3    Honjo, T.4    Stark, K.L.5    Gridley, T.6
  • 16
    • 41149156903 scopus 로고    scopus 로고
    • Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development
    • High FA, Lu MM, Pear WS, et al. Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development. Proc Natl Acad Sci USA 2008; 105: 1955-1959
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 1955-1959
    • High, F.A.1    Lu, M.M.2    Pear, W.S.3
  • 18
    • 0037069322 scopus 로고    scopus 로고
    • Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
    • DOI 10.1161/01.CIR.0000037221.45902.69
    • McElhinney DB, Krantz ID, Bason L, et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 2002; 106: 2567-2574 (Pubitemid 35340693)
    • (2002) Circulation , vol.106 , Issue.20 , pp. 2567-2574
    • McElhinney, D.B.1    Krantz, I.D.2    Bason, L.3    Piccoli, D.A.4    Emerick, K.M.5    Spinner, N.B.6    Goldmuntz, E.7
  • 19
    • 0017407580 scopus 로고
    • Studies of the aetiology of neonatal hepatitis and biliary atresia
    • Danks DM, Campbell PE, Jack I, et al. Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 1977; 52: 360-367 (Pubitemid 8101379)
    • (1977) Archives of Disease in Childhood , vol.52 , Issue.5 , pp. 360-367
    • Danks, D.M.1    Campbell, P.E.2    Jack, I.3
  • 22
    • 0023551346 scopus 로고
    • Syndromic paucity of the intrahepatic bile ducts: Diagnostic difficulty; severe morbidity throughout early childhood
    • Deprettere A, Portmann B, Mowat AP. Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood. J Pediatr Gastroenterol Nutr 1987; 6: 865-871 (Pubitemid 18046914)
    • (1987) Journal of Pediatric Gastroenterology and Nutrition , vol.6 , Issue.6 , pp. 865-871
    • Deprettere, A.1    Portmann, B.2    Mowat, A.P.3
  • 23
    • 0028269284 scopus 로고
    • Arteriohepatic dyspla-sia and cardiovascular malformations
    • Silberbach M, Lashley D, Reller MD, et al. Arteriohepatic dyspla-sia and cardiovascular malformations. Am Heart J 1994; 127: 695-699
    • (1994) Am Heart J , vol.127 , pp. 695-699
    • Silberbach, M.1    Lashley, D.2    Reller, M.D.3
  • 24
    • 0019459469 scopus 로고
    • Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia
    • Puklin JE, Riely CA, Simon RM, et al. Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia. Ophthalmology 1981; 88: 337-347
    • (1981) Ophthalmology , vol.88 , pp. 337-347
    • Puklin, J.E.1    Riely, C.A.2    Simon, R.M.3
  • 25
    • 0029125839 scopus 로고
    • Outcome of syn-dromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy
    • Hoffenberg EJ, Narkewicz MR, Sondheimer JM, et al. Outcome of syn-dromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 1995; 127: 220-224
    • (1995) J Pediatr , vol.127 , pp. 220-224
    • Hoffenberg, E.J.1    Narkewicz, M.R.2    Sondheimer, J.M.3
  • 26
    • 1642271395 scopus 로고    scopus 로고
    • Vascular anomalies in Alagille syndrome: A significant cause of morbidity and mortality
    • Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 2004; 109: 1354-1358
    • (2004) Circulation , vol.109 , pp. 1354-1358
    • Kamath, B.M.1    Spinner, N.B.2    Emerick, K.M.3
  • 28
    • 0018628024 scopus 로고
    • Arteriohepatic dysplasia: A benign syndrome of intrahepatic cholestasis with multiple organ involvement
    • Riely CA, Cotlier E, Jensen PS, et al. Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med 1979; 91: 520-527 (Pubitemid 10188846)
    • (1979) Annals of Internal Medicine , vol.91 , Issue.4 , pp. 520-527
    • Riely, C.A.1    Cotlier, E.2    Jensen, P.S.3
  • 29
    • 0028231583 scopus 로고
    • Renal involvement in the Alagille syndrome
    • Dommergues JP, Gubler MC, Habib R, et al. Renal involvement in the Alagille syndrome. Arch Pediatr 1994; 1: 411-413
    • (1994) Arch Pediatr , vol.1 , pp. 411-413
    • Dommergues, J.P.1    Gubler, M.C.2    Habib, R.3
  • 32
    • 0020560638 scopus 로고
    • Tubulointerstitial nephropathy associated with arteriohepatic dysplasia
    • Hyams JS, Berman MM, Davis BH. Tubulointerstitial nephropathy associated with arteriohepatic dysplasia. Gastroenterology 1983; 85: 430-434
    • (1983) Gastroenterology , vol.85 , pp. 430-434
    • Hyams, J.S.1    Berman, M.M.2    Davis, B.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.