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Volumn 134, Issue 3, 2014, Pages e833-e845

Autosomal recessive polycystic kidney disease: A hepatorenal fibrocystic disorder with pleiotropic effects

Author keywords

Congenital hepatic fibrosis; Dialysis; Genetic testing; Kidney transplantation; Liver transplantation; Polycystic kidney disease; Preimplantation genetic diagnosis

Indexed keywords

FIBROCYSTIN; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; RAPAMYCIN; SOMATOSTATIN DERIVATIVE; UNCLASSIFIED DRUG; VASOPRESSIN RECEPTOR ANTAGONIST; VASOPRESSIN V2 RECEPTOR; VASOPRESSIN V2 RECEPTOR ANTAGONIST;

EID: 84907205578     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2013-3646     Document Type: Review
Times cited : (110)

References (143)
  • 1
    • 0032485302 scopus 로고    scopus 로고
    • Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology
    • Zerres K, Mücher G, Becker J, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet. 1998; 76(2):137-144
    • (1998) Am J Med Genet , vol.76 , Issue.2 , pp. 137-144
    • Zerres, K.1    Mücher, G.2    Becker, J.3
  • 2
    • 0030957715 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors
    • Roy S, Dillon MJ, Trompeter RS, Barratt TM. Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol. 1997;11(3):302-306
    • (1997) Pediatr Nephrol , vol.11 , Issue.3 , pp. 302-306
    • Roy, S.1    Dillon, M.J.2    Trompeter, R.S.3    Barratt, T.M.4
  • 4
    • 0023701796 scopus 로고
    • Dominant and recessive polycystic kidney disease in children: Classification by intravenous pyelography, ultrasound, and computed tomography
    • Kääriäinen H, Jääskeläinen J, Kivisaari L, Koskimies O, Norio R. Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomography. Pediatr Radiol. 1988;18(1):45-50
    • (1988) Pediatr Radiol , vol.18 , Issue.1 , pp. 45-50
    • Kääriäinen, H.1    Jääskeläinen, J.2    Kivisaari, L.3    Koskimies, O.4    Norio, R.5
  • 5
    • 33644957836 scopus 로고    scopus 로고
    • Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
    • Adeva M, El-Youssef M, Rossetti S, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006;85(1): 1-21 doi:10.1097/01.md.0000200165.90373.9a
    • (2006) Medicine (Baltimore) , vol.85 , Issue.1 , pp. 1-21
    • Adeva, M.1    El-Youssef, M.2    Rossetti, S.3
  • 6
    • 20144375384 scopus 로고    scopus 로고
    • APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
    • Bergmann C, Senderek J, Windelen E, et al; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005; 67(3):829-848 doi:10.1111/j.1523-1755.2005. 00148.x
    • (2005) Kidney Int , vol.67 , Issue.3 , pp. 829-848
    • Bergmann, C.1    Senderek, J.2    Windelen, E.3
  • 7
    • 0001652622 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease in 115 children: Clinical presentation, course and influence of gender. Arbeitsgemeinschaft fur Padiatrische, Nephrologie
    • Zerres K, Rudnik-Schoneborn S, Deget F, et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft fur Padiatrische, Nephrologie. Acta Paediatr. 1996;85(4):437-445
    • (1996) Acta Paediatr , vol.85 , Issue.4 , pp. 437-445
    • Zerres, K.1    Rudnik-Schoneborn, S.2    Deget, F.3
  • 8
    • 0038263816 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease: Outcomes from a single-center experience
    • Capisonda R, Phan V, Traubuci J, Daneman A, Balfe JW, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. Pediatr Nephrol. 2003;18(2):119-126 doi: 10.1007/s00467-002-1021-0
    • (2003) Pediatr Nephrol , vol.18 , Issue.2 , pp. 119-126
    • Capisonda, R.1    Phan, V.2    Traubuci, J.3    Daneman, A.4    Balfe, J.W.5    Guay-Woodford, L.M.6
  • 9
    • 0038304401 scopus 로고    scopus 로고
    • Autosomal recessive polycystic kidney disease: The clinical experience in North America
    • Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 2003;111(5 pt 1):1072-1080
    • (2003) Pediatrics , vol.111 , Issue.5 , pp. 1072-1080
    • Guay-Woodford, L.M.1    Desmond, R.A.2
  • 10
    • 18344366124 scopus 로고    scopus 로고
    • PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexintranscription-factor domains and parallel beta-helix 1 repeats
    • Onuchic LF, Furu L, Nagasawa Y, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexintranscription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet. 2002; 70(5):1305-1317 doi:10.1086/340448
    • (2002) Am J Hum Genet , vol.70 , Issue.5 , pp. 1305-1317
    • Onuchic, L.F.1    Furu, L.2    Nagasawa, Y.3
  • 11
    • 0036509712 scopus 로고    scopus 로고
    • The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
    • Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30 (3):259-269 doi:10.1038/ng833
    • (2002) Nat Genet , vol.30 , Issue.3 , pp. 259-269
    • Ward, C.J.1    Hogan, M.C.2    Rossetti, S.3
  • 12
    • 33748646158 scopus 로고    scopus 로고
    • Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
    • Bergmann C, Frank V, Küpper F, Schmidt C, Senderek J, Zerres K. Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease. J Hum Genet. 2006;51 (9):788-793 doi:10.1007/s10038-006-0022-4
    • (2006) J Hum Genet , vol.51 , Issue.9 , pp. 788-793
    • Bergmann, C.1    Frank, V.2    Küpper, F.3    Schmidt, C.4    Senderek, J.5    Zerres, K.6
  • 13
    • 4644282724 scopus 로고    scopus 로고
    • Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm
    • Menezes LFC, Cai Y, Nagasawa Y, et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int. 2004;66(4):1345-1355 doi:10.1111/j.1523-1755.2004.00844.x
    • (2004) Kidney Int , vol.66 , Issue.4 , pp. 1345-1355
    • Menezes, L.F.C.1    Cai, Y.2    Nagasawa, Y.3
  • 14
    • 10744222228 scopus 로고    scopus 로고
    • PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells
    • Zhang MZ, Mai W, Li C, et al. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proc Natl Acad Sci USA. 2004;101(8):2311-2316
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.8 , pp. 2311-2316
    • Zhang, M.Z.1    Mai, W.2    Li, C.3
  • 15
    • 0036707877 scopus 로고    scopus 로고
    • Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
    • Nagasawa Y, Matthiesen S, Onuchic LF, et al. Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol. 2002;13(9):2246-2258 doi:10.1097/01.ASN.0000030392.19694.9D
    • (2002) J Am Soc Nephrol , vol.13 , Issue.9 , pp. 2246-2258
    • Nagasawa, Y.1    Matthiesen, S.2    Onuchic, L.F.3
  • 16
    • 10744220950 scopus 로고    scopus 로고
    • Cellular and subcellular localization of the ARPKD protein; Fibrocystin is expressed on primary cilia
    • Ward CJ, Yuan D, Masyuk TV, et al. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet. 2003;12(20): 2703-2710 doi:10.1093/hmg/ddg274
    • (2003) Hum Mol Genet , vol.12 , Issue.20 , pp. 2703-2710
    • Ward, C.J.1    Yuan, D.2    Masyuk, T.V.3
  • 17
    • 1542378854 scopus 로고    scopus 로고
    • The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area
    • Wang S, Luo Y, Wilson PD, Witman GB, Zhou J. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol. 2004;15(3):592-602 doi: 10.1097/01.ASN.0000113793.12558.1D
    • (2004) J Am Soc Nephrol , vol.15 , Issue.3 , pp. 592-602
    • Wang, S.1    Luo, Y.2    Wilson, P.D.3    Witman, G.B.4    Zhou, J.5
  • 18
    • 82655181482 scopus 로고    scopus 로고
    • Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin
    • Bakeberg JL, Tammachote R, Woollard JR, et al. Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin. J Am Soc Nephrol. 2011;22(12):2266-2277 doi:10.1681/ASN.2010111173
    • (2011) J Am Soc Nephrol , vol.22 , Issue.12 , pp. 2266-2277
    • Bakeberg, J.L.1    Tammachote, R.2    Woollard, J.R.3
  • 19
    • 39549108666 scopus 로고    scopus 로고
    • Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1
    • Gallagher A-R, Esquivel EL, Briere TS, et al. Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol. 2008;172(2):417-429 doi:10.2353/ajpath.2008.070381
    • (2008) Am J Pathol , vol.172 , Issue.2 , pp. 417-429
    • Gallagher, A.-R.1    Esquivel, E.L.2    Briere, T.S.3
  • 20
    • 77955351090 scopus 로고    scopus 로고
    • Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity
    • Zhang J, Wu M, Wang S, Shah JV, Wilson PD, Zhou J. Polycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity. Hum Mol Genet. 2010;19(17):3306-3319 doi:10.1093/hmg/ddq233
    • (2010) Hum Mol Genet , vol.19 , Issue.17 , pp. 3306-3319
    • Zhang, J.1    Wu, M.2    Wang, S.3    Shah, J.V.4    Wilson, P.D.5    Zhou, J.6
  • 21
    • 0042667181 scopus 로고    scopus 로고
    • From cilia to cyst
    • Watnick T, Germino G. From cilia to cyst. Nat Genet. 2003;34(4):355-356 doi:10.1038/ng0803-355
    • (2003) Nat Genet , vol.34 , Issue.4 , pp. 355-356
    • Watnick, T.1    Germino, G.2
  • 22
    • 77249115100 scopus 로고    scopus 로고
    • Polycystic kidney disease, cilia, and planar polarity
    • Menezes LF, Germino GG. Polycystic kidney disease, cilia, and planar polarity. Methods Cell Biol. 2009;94(08):273-297 doi: 10.1016/S0091-679X(08)94014-0
    • (2009) Methods Cell Biol , vol.94 , Issue.8 , pp. 273-297
    • Menezes, L.F.1    Germino, G.G.2
  • 23
    • 84874828473 scopus 로고    scopus 로고
    • The ciliary flow sensor and polycystic kidney disease
    • Kotsis F, Boehlke C, Kuehn EW. The ciliary flow sensor and polycystic kidney disease. Nephrol Dial Transplant. 2013;28(3):518-526 doi:10.1093/ndt/gfs524
    • (2013) Nephrol Dial Transplant , vol.28 , Issue.3 , pp. 518-526
    • Kotsis, F.1    Boehlke, C.2    Kuehn, E.W.3
  • 24
    • 16244368607 scopus 로고    scopus 로고
    • Intraflagellar transport and cilia-dependent renal disease: The ciliary hypothesis of polycystic kidney disease
    • Pazour GJ. Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease. J Am Soc Nephrol. 2004;15(10):2528-2536 doi:10.1097/01.ASN.0000141055.57643.E0
    • (2004) J Am Soc Nephrol , vol.15 , Issue.10 , pp. 2528-2536
    • Pazour, G.J.1
  • 25
    • 34248151938 scopus 로고    scopus 로고
    • Role of primary cilia in the pathogenesis of polycystic kidney disease
    • Yoder BK. Role of primary cilia in the pathogenesis of polycystic kidney disease. J Am Soc Nephrol. 2007;18(5):1381-1388 doi:10.1681/ASN.2006111215
    • (2007) J Am Soc Nephrol , vol.18 , Issue.5 , pp. 1381-1388
    • Yoder, B.K.1
  • 27
    • 57649130595 scopus 로고    scopus 로고
    • Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin
    • Kim I, Li C, Liang D, et al. Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin. J Biol Chem. 2008;283(46): 31559-31566 doi:10.1074/jbc.M805452200
    • (2008) J Biol Chem , vol.283 , Issue.46 , pp. 31559-31566
    • Kim, I.1    Li, C.2    Liang, D.3
  • 28
    • 40449103145 scopus 로고    scopus 로고
    • Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function
    • Kim I, Fu Y, Hui K, et al. Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol. 2008;19(3): 455-468 doi:10.1681/ASN.2007070770
    • (2008) J Am Soc Nephrol , vol.19 , Issue.3 , pp. 455-468
    • Kim, I.1    Fu, Y.2    Hui, K.3
  • 29
    • 34147215806 scopus 로고    scopus 로고
    • Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia
    • Wang S, Zhang J, Nauli SM, et al. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol Cell Biol. 2007;27 (8):3241-3252 doi:10.1128/MCB.00072-07
    • (2007) Mol Cell Biol , vol.27 , Issue.8 , pp. 3241-3252
    • Wang, S.1    Zhang, J.2    Nauli, S.M.3
  • 30
    • 0030909957 scopus 로고    scopus 로고
    • PKD1 interacts with PKD2 through a probable coiled-coil domain
    • Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet. 1997;16(2):179-183 doi: 10.1038/ng0697-179
    • (1997) Nat Genet , vol.16 , Issue.2 , pp. 179-183
    • Qian, F.1    Germino, F.J.2    Cai, Y.3    Zhang, X.4    Somlo, S.5    Germino, G.G.6
  • 31
    • 0030979629 scopus 로고    scopus 로고
    • Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2
    • Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G. Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci USA. 1997;94(13):6965-6970
    • (1997) Proc Natl Acad Sci USA , vol.94 , Issue.13 , pp. 6965-6970
    • Tsiokas, L.1    Kim, E.2    Arnould, T.3    Sukhatme, V.P.4    Walz, G.5
  • 32
    • 84877886933 scopus 로고    scopus 로고
    • Polycystin-1C terminus cleavage and its relation with polycystin-2, two proteins involved in polycystic kidney disease
    • Bertuccio CA, Caplan MJ. Polycystin-1C terminus cleavage and its relation with polycystin-2, two proteins involved in polycystic kidney disease. Medicina (B Aires). 2013;73(2):155-162
    • (2013) Medicina (B Aires) , vol.73 , Issue.2 , pp. 155-162
    • Bertuccio, C.A.1    Caplan, M.J.2
  • 34
    • 14944378098 scopus 로고    scopus 로고
    • Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
    • Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2005;25(3):225-231 doi:10.1002/humu.20145
    • (2005) Hum Mutat , vol.25 , Issue.3 , pp. 225-231
    • Bergmann, C.1    Küpper, F.2    Dornia, C.3    Schneider, F.4    Senderek, J.5    Zerres, K.6
  • 35
    • 2342588823 scopus 로고    scopus 로고
    • PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
    • Bergmann C, Senderek J, Küpper F, et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004;23(5):453-463 doi:10.1002/humu.20029
    • (2004) Hum Mutat , vol.23 , Issue.5 , pp. 453-463
    • Bergmann, C.1    Senderek, J.2    Küpper, F.3
  • 36
    • 34248180073 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease
    • Rossetti S, Harris PC. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol. 2007;18(5): 1374-1380 doi:10.1681/ASN.2007010125
    • (2007) J Am Soc Nephrol , vol.18 , Issue.5 , pp. 1374-1380
    • Rossetti, S.1    Harris, P.C.2
  • 37
    • 12244300887 scopus 로고    scopus 로고
    • Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
    • Bergmann C, Senderek J, Sedlacek B, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol. 2003;14(1):76-89 doi:10.1136/jmg.2005.032318
    • (2003) J Am Soc Nephrol , vol.14 , Issue.1 , pp. 76-89
    • Bergmann, C.1    Senderek, J.2    Sedlacek, B.3
  • 38
    • 0042844709 scopus 로고    scopus 로고
    • Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
    • Furu L, Onuchic LF, Gharavi A, et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol. 2003;14(8):2004-2014
    • (2003) J Am Soc Nephrol , vol.14 , Issue.8 , pp. 2004-2014
    • Furu, L.1    Onuchic, L.F.2    Gharavi, A.3
  • 39
    • 17144369146 scopus 로고    scopus 로고
    • Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
    • Sharp AM, Messiaen LM, Page G, et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet. 2005;42(4):336-349 doi:10.1136/jmg.2004.024489
    • (2005) J Med Genet , vol.42 , Issue.4 , pp. 336-349
    • Sharp, A.M.1    Messiaen, L.M.2    Page, G.3
  • 40
    • 2342544210 scopus 로고    scopus 로고
    • PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
    • Bergmann C, Senderek J, Schneider F, et al. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004;23(5):487-495 doi:10.1002/humu.20019
    • (2004) Hum Mutat , vol.23 , Issue.5 , pp. 487-495
    • Bergmann, C.1    Senderek, J.2    Schneider, F.3
  • 41
    • 75749103271 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
    • Denamur E, Delezoide AL, Alberti C, et al; Société Française de Foetopathologie. Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney Int. 2010; 77(4):350-358 doi:10.1038/ki.2009.440
    • (2010) Kidney Int , vol.77 , Issue.4 , pp. 350-358
    • Denamur, E.1    Delezoide, A.L.2    Alberti, C.3    Société Française de Foetopathologie4
  • 42
    • 27944445032 scopus 로고    scopus 로고
    • Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)
    • Losekoot M, Haarloo C, Ruivenkamp C, White SJ, Breuning MH, Peters DJM. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Hum Genet. 2005;118(2):185-206 doi:10.1007/s00439-005-0027-7
    • (2005) Hum Genet , vol.118 , Issue.2 , pp. 185-206
    • Losekoot, M.1    Haarloo, C.2    Ruivenkamp, C.3    White, S.J.4    Breuning, M.H.5    Peters, D.J.M.6
  • 43
    • 73749087490 scopus 로고    scopus 로고
    • PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis
    • Gunay-Aygun M, Tuchman M, Font-Montgomery E, et al. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab. 2010;99(2):160-173 doi:10.1016/j.ymgme.2009.10.010
    • (2010) Mol Genet Metab , vol.99 , Issue.2 , pp. 160-173
    • Gunay-Aygun, M.1    Tuchman, M.2    Font-Montgomery, E.3
  • 44
    • 77953304171 scopus 로고    scopus 로고
    • Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease
    • Gunay-Aygun M, Font-Montgomery E, Lukose L, et al. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 2010;5(6): 972-984 doi:10.2215/CJN.07141009
    • (2010) Clin J Am Soc Nephrol , vol.5 , Issue.6 , pp. 972-984
    • Gunay-Aygun, M.1    Font-Montgomery, E.2    Lukose, L.3
  • 45
    • 0028282550 scopus 로고
    • Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
    • Zerres K, Mücher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994; 7(3):429-432 doi:10.1038/ng0794-429
    • (1994) Nat Genet , vol.7 , Issue.3 , pp. 429-432
    • Zerres, K.1    Mücher, G.2    Bachner, L.3
  • 46
    • 0028036411 scopus 로고
    • Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12
    • Mücher G, Wirth B, Zerres K. Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12. Am J Hum Genet. 1994;55(6):1281-1284
    • (1994) Am J Hum Genet , vol.55 , Issue.6 , pp. 1281-1284
    • Mücher, G.1    Wirth, B.2    Zerres, K.3
  • 47
    • 0028906290 scopus 로고
    • The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling
    • Guay-Woodford LM, Muecher G, Hopkins SD, et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am J Hum Genet. 1995;56(5):1101-1107
    • (1995) Am J Hum Genet , vol.56 , Issue.5 , pp. 1101-1107
    • Guay-Woodford, L.M.1    Muecher, G.2    Hopkins, S.D.3
  • 48
    • 10744226026 scopus 로고    scopus 로고
    • A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees
    • Rossetti S, Torra R, Coto E, et al. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int. 2003; 64(2):391-403 doi:10.1046/j.1523-1755.2003.00111.x
    • (2003) Kidney Int , vol.64 , Issue.2 , pp. 391-403
    • Rossetti, S.1    Torra, R.2    Coto, E.3
  • 49
    • 77955878100 scopus 로고    scopus 로고
    • Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction
    • Zvereff V, Yao S, Ramsey J, Mikhail FM, Vijzelaar R, Messiaen L. Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction. Genet Test Mol Biomarkers. 2010;14(4): 505-510 doi:10.1089/gtmb.2009.0188
    • (2010) Genet Test Mol Biomarkers , vol.14 , Issue.4 , pp. 505-510
    • Zvereff, V.1    Yao, S.2    Ramsey, J.3    Mikhail, F.M.4    Vijzelaar, R.5    Messiaen, L.6
  • 50
    • 19944419434 scopus 로고    scopus 로고
    • Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease
    • Consugar MB, Anderson SA, Rossetti S, et al. Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis. 2005;45(1):77-87 doi:10.1053/j.ajkd.2004.09.009
    • (2005) Am J Kidney Dis , vol.45 , Issue.1 , pp. 77-87
    • Consugar, M.B.1    Anderson, S.A.2    Rossetti, S.3
  • 51
    • 47549117011 scopus 로고    scopus 로고
    • Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation
    • Bergmann C, Brüchle NO, Frank V, Rehder H, Zerres K. Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N Engl J Med. 2008;359(3):318-319 doi:10.1056/NEJMc0801868
    • (2008) N Engl J Med , vol.359 , Issue.3 , pp. 318-319
    • Bergmann, C.1    Brüchle, N.O.2    Frank, V.3    Rehder, H.4    Zerres, K.5
  • 52
    • 77954598398 scopus 로고    scopus 로고
    • Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD
    • Vujic M, Heyer CM, Ars E, et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol. 2010;21(7):1097-1102 doi: 10.1681/ASN.2009101070
    • (2010) J Am Soc Nephrol , vol.21 , Issue.7 , pp. 1097-1102
    • Vujic, M.1    Heyer, C.M.2    Ars, E.3
  • 53
    • 80555136788 scopus 로고    scopus 로고
    • Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
    • Bergmann C, von Bothmer J, Ortiz Brüchle N, et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol. 2011;22(11): 2047-2056 doi:10.1681/ASN.2010101080
    • (2011) J Am Soc Nephrol , vol.22 , Issue.11 , pp. 2047-2056
    • Bergmann, C.1    Von Bothmer, J.2    Ortiz Brüchle, N.3
  • 54
    • 33947237697 scopus 로고    scopus 로고
    • Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys
    • Decramer S, Parant O, Beaufils S, et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol. 2007;18(3):923-933 doi:10.1681/ASN.2006091057
    • (2007) J Am Soc Nephrol , vol.18 , Issue.3 , pp. 923-933
    • Decramer, S.1    Parant, O.2    Beaufils, S.3
  • 55
    • 84876465853 scopus 로고    scopus 로고
    • Autosomal-recessive polycystic kidney disease gets more complex
    • Bergmann C. Autosomal-recessive polycystic kidney disease gets more complex. Gastroenterology. 2013;144(5):1155-1156 doi:10.1053/j.gastro.2013.02.046
    • (2013) Gastroenterology , vol.144 , Issue.5 , pp. 1155-1156
    • Bergmann, C.1
  • 56
    • 0025935916 scopus 로고
    • Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease
    • Reuss A, Wladimiroff JW, Niermeyer MF. Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease. Ultrasound Med Biol. 1991;17(7): 687-694
    • (1991) Ultrasound Med Biol , vol.17 , Issue.7 , pp. 687-694
    • Reuss, A.1    Wladimiroff, J.W.2    Niermeyer, M.F.3
  • 57
    • 33845910363 scopus 로고    scopus 로고
    • Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study
    • Chaumoitre K, Brun M, Cassart M, et al. Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol. 2006;28(7):911-917 doi:10.1002/uog.3856
    • (2006) Ultrasound Obstet Gynecol , vol.28 , Issue.7 , pp. 911-917
    • Chaumoitre, K.1    Brun, M.2    Cassart, M.3
  • 58
    • 3142776183 scopus 로고    scopus 로고
    • Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: A multicenter study
    • Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni EF. Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet Gynecol. 2004;24(1):55-61 doi: 10.1002/uog.1098
    • (2004) Ultrasound Obstet Gynecol , vol.24 , Issue.1 , pp. 55-61
    • Brun, M.1    Maugey-Laulom, B.2    Eurin, D.3    Didier, F.4    Avni, E.F.5
  • 59
    • 0021917343 scopus 로고
    • Infantile polycystic kidney disease: Observations from attempts at prenatal diagnosis
    • Luthy DA, Hirsch JH. Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis. Am J Med Genet. 1985;20(3):505-517 doi: 10.1002/ajmg.1320200311
    • (1985) Am J Med Genet , vol.20 , Issue.3 , pp. 505-517
    • Luthy, D.A.1    Hirsch, J.H.2
  • 60
    • 3242705200 scopus 로고    scopus 로고
    • New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
    • Zerres K, Senderek J, Rudnik-Schöneborn S, et al. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet. 2004;66(1):53-57 doi:10.1111/j.0009-9163.2004.00259.x
    • (2004) Clin Genet , vol.66 , Issue.1 , pp. 53-57
    • Zerres, K.1    Senderek, J.2    Rudnik-Schöneborn, S.3
  • 61
    • 33646044679 scopus 로고    scopus 로고
    • Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy
    • Gaspar H, Michel-Calemard L, Morel Y, Wisser J, Stallmach T, Schinzel A. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy. Prenat Diagn. 2006;26(4):392-393 doi:10.1002/pd.1420
    • (2006) Prenat Diagn , vol.26 , Issue.4 , pp. 392-393
    • Gaspar, H.1    Michel-Calemard, L.2    Morel, Y.3    Wisser, J.4    Stallmach, T.5    Schinzel, A.6
  • 62
    • 38849141743 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease
    • Gigarel N, Frydman N, Burlet P, et al. Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online. 2008;16 (1):152-158
    • (2008) Reprod Biomed Online , vol.16 , Issue.1 , pp. 152-158
    • Gigarel, N.1    Frydman, N.2    Burlet, P.3
  • 63
    • 19944432386 scopus 로고    scopus 로고
    • Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)
    • Thornhill AR, deDie-Smulders CE, Geraedts JP, et al; ESHRE PGD Consortium. ESHRE PGD Consortium "Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)." Hum Reprod. 2005; 20(1):35-48 doi:10.1093/humrep/deh579
    • (2005) Hum Reprod , vol.20 , Issue.1 , pp. 35-48
    • Thornhill, A.R.1    Dedie-Smulders, C.E.2    Geraedts, J.P.3
  • 64
    • 77956413044 scopus 로고    scopus 로고
    • Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification
    • Lau EC, Janson MM, Roesler MR, Avner ED, Strawn EY, Bick DP. Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. J Assist Reprod Genet. 2010;27(7):397-407 doi: 10.1007/s10815-010-9432-5
    • (2010) J Assist Reprod Genet , vol.27 , Issue.7 , pp. 397-407
    • Lau, E.C.1    Janson, M.M.2    Roesler, M.R.3    Avner, E.D.4    Strawn, E.Y.5    Bick, D.P.6
  • 65
    • 80155198764 scopus 로고    scopus 로고
    • Respiratory and general outcome in neonates with renal oligohydramnios-a single-centre experience
    • Mehler K, Beck BB, Kaul I, Rahimi G, Hoppe B, Kribs A. Respiratory and general outcome in neonates with renal oligohydramnios-a single-centre experience. Nephrol Dial Transplant. 2011;26(11): 3514-3522. doi:10.1093/ndt/gfr046doi:10.1093/ndt/gfr046
    • (2011) Nephrol Dial Transplant , vol.26 , Issue.11 , pp. 3514-3514
    • Mehler, K.1    Beck, B.B.2    Kaul, I.3    Rahimi, G.4    Hoppe, B.5    Kribs, A.6
  • 68
    • 0029126958 scopus 로고
    • Aggressive respiratory support and unilateral nephrectomy for infants with severe perinatal autosomal recessive polycystic kidney disease
    • Bean SA, Bednarek FJ, Primack WA. Aggressive respiratory support and unilateral nephrectomy for infants with severe perinatal autosomal recessive polycystic kidney disease. J Pediatr. 1995;127(2): 311-313
    • (1995) J Pediatr , vol.127 , Issue.2 , pp. 311-313
    • Bean, S.A.1    Bednarek, F.J.2    Primack, W.A.3
  • 69
    • 5444249233 scopus 로고    scopus 로고
    • Unilateral nephrectomy as palliative therapy in an infant with autosomal recessive polycystic kidney disease
    • Shukla AR, Kiddoo DA, Canning DA. Unilateral nephrectomy as palliative therapy in an infant with autosomal recessive polycystic kidney disease. J Urol. 2004; 172(5 pt 1):2000-2001 doi:10.1097/01.ju.0000142025.80132.2f
    • (2004) J Urol , vol.172 , Issue.5 , pp. 2000-2001
    • Shukla, A.R.1    Kiddoo, D.A.2    Canning, D.A.3
  • 70
    • 58549097100 scopus 로고    scopus 로고
    • Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expressio n of EGFR
    • Arbeiter A, Büscher R, Bonzel K-E, et al. Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expressio n of EGFR. Nephrol Dial Transplant. 2008;23(9):3026-3029 doi: 10.1093/ndt/gfn288
    • (2008) Nephrol Dial Transplant , vol.23 , Issue.9 , pp. 3026-3029
    • Arbeiter, A.1    Büscher, R.2    Bonzel, K.-E.3
  • 71
    • 0032774079 scopus 로고    scopus 로고
    • Bilateral nephrectomy, peritoneal dialysis and subsequent cadaveric renal transplantation for treatment of renal failure due to polycystic kidney disease requiring continuous ventilation
    • Spechtenhauser B, Hochleitner BW, Ellemunter H, et al. Bilateral nephrectomy, peritoneal dialysis and subsequent cadaveric renal transplantation for treatment of renal failure due to polycystic kidney disease requiring continuous ventilation. Pediatr Transplant. 1999;3(3):246-248
    • (1999) Pediatr Transplant , vol.3 , Issue.3 , pp. 246-248
    • Spechtenhauser, B.1    Hochleitner, B.W.2    Ellemunter, H.3
  • 72
    • 0027228394 scopus 로고
    • Aggressive surgical and medical management of autosomal recessive polycystic kidney disease
    • Sumfest JM, Burns MW, Mitchell ME. Aggressive surgical and medical management of autosomal recessive polycystic kidney disease. Urology. 1993;42(3):309-312
    • (1993) Urology , vol.42 , Issue.3 , pp. 309-312
    • Sumfest, J.M.1    Burns, M.W.2    Mitchell, M.E.3
  • 73
    • 0023552213 scopus 로고
    • Polycystic kidney disease in the first year of life
    • Cole BR, Conley SB, Stapleton FB. Polycystic kidney disease in the first year of life. J Pediatr. 1987;111(5):693-699
    • (1987) J Pediatr , vol.111 , Issue.5 , pp. 693-699
    • Cole, B.R.1    Conley, S.B.2    Stapleton, F.B.3
  • 74
    • 0023705784 scopus 로고
    • Dominant and recessive polycystic kidney disease in children: Evaluation of clinical features and laboratory data
    • Kääriäinen H, Koskimies O, Norio R. Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data. Pediatr Nephrol. 1988;2(3):296-302
    • (1988) Pediatr Nephrol , vol.2 , Issue.3 , pp. 296-302
    • Kääriäinen, H.1    Koskimies, O.2    Norio, R.3
  • 76
    • 0026725804 scopus 로고
    • Autosomal recessive polycystic kidney disease
    • Zerres K. Autosomal recessive polycystic kidney disease. Clin Investig. 1992;70(9): 794-801
    • (1992) Clin Investig , vol.70 , Issue.9 , pp. 794-801
    • Zerres, K.1
  • 77
    • 78449280887 scopus 로고    scopus 로고
    • The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease
    • Goto M, Hoxha N, Osman R, Dell KM. The renin-angiotensin system and hypertension in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2010; 25(12):2449-2457 doi:10.1007/s00467-010- 1621-z
    • (2010) Pediatr Nephrol , vol.25 , Issue.12 , pp. 2449-2457
    • Goto, M.1    Hoxha, N.2    Osman, R.3    Dell, K.M.4
  • 78
    • 34250875018 scopus 로고    scopus 로고
    • Temporal relationship between renal cyst development, hypertension and cardiac hypertrophy in a new rat model of autosomal recessive polycystic kidney disease
    • Phillips JK, Hopwood D, Loxley RA, et al. Temporal relationship between renal cyst development, hypertension and cardiac hypertrophy in a new rat model of autosomal recessive polycystic kidney disease. Kidney Blood Press Res. 2007;30(3): 129-144 doi:10.1159/000101828
    • (2007) Kidney Blood Press Res , vol.30 , Issue.3 , pp. 129-144
    • Phillips, J.K.1    Hopwood, D.2    Loxley, R.A.3
  • 79
    • 70350310100 scopus 로고    scopus 로고
    • Strict blood-pressure control and progression of renal failure in children
    • Wühl E, Trivelli A, Picca S, et al; ESCAPE Trial Group. Strict blood-pressure control and progression of renal failure in children. N Engl J Med. 2009;361(17):1639-1650 doi:10.1056/NEJMoa0902066
    • (2009) N Engl J Med , vol.361 , Issue.17 , pp. 1639-1650
    • Wühl, E.1    Trivelli, A.2    Picca, S.3
  • 80
    • 79960900615 scopus 로고    scopus 로고
    • Clinical aspects of autosomal recessive polycystic kidney disease
    • Dias NF, Lanzarini V, Onuchic LF, Koch VHK. Clinical aspects of autosomal recessive polycystic kidney disease. J Bras Neurol. 2010;32(3):263-267
    • (2010) J Bras Neurol , vol.32 , Issue.3 , pp. 263-267
    • Dias, N.F.1    Lanzarini, V.2    Onuchic, L.F.3    Koch, V.H.K.4
  • 81
    • 0027462332 scopus 로고
    • Renal calcifications in patients with autosomal recessive polycystic kidney disease: Prevalence and cause
    • Lucaya J, Enriquez G, Nieto J, Callis L, Garcia Peña P, Dominguez C. Renal calcifications in patients with autosomal recessive polycystic kidney disease: prevalence and cause. AJR Am J Roentgenol. 1993;160(2):359-362 doi:10.2214/ajr.160.2.8424350
    • (1993) AJR Am J Roentgenol , vol.160 , Issue.2 , pp. 359-362
    • Lucaya, J.1    Enriquez, G.2    Nieto, J.3    Callis, L.4    Garcia Peña, P.5    Dominguez, C.6
  • 82
    • 84855187939 scopus 로고    scopus 로고
    • Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease
    • Wen J. Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease. Clin Transl Sci. 2011;4(6):460-465 doi:10.1111/j.1752-8062.2011.00306.x
    • (2011) Clin Transl Sci , vol.4 , Issue.6 , pp. 460-465
    • Wen, J.1
  • 83
    • 84859947258 scopus 로고    scopus 로고
    • Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease
    • Srinath A, Shneider BL. Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012;54(5):580-587 doi: 10.1097/MPG.0b013e31824711b7
    • (2012) J Pediatr Gastroenterol Nutr , vol.54 , Issue.5 , pp. 580-587
    • Srinath, A.1    Shneider, B.L.2
  • 84
    • 84871345094 scopus 로고    scopus 로고
    • Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease
    • e2
    • Gunay-Aygun M, Font-Montgomery E, Lukose L, et al. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013;144(1):112-121.e2 doi:10.1053/j.gastro.2012.09.056
    • (2013) Gastroenterology , vol.144 , Issue.1 , pp. 112-121
    • Gunay-Aygun, M.1    Font-Montgomery, E.2    Lukose, L.3
  • 85
    • 84878011665 scopus 로고    scopus 로고
    • New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications
    • Telega G, Cronin D, Avner ED. New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. Pediatr Transplant. 2013;17(4):328-335 doi:10.1111/petr.12076
    • (2013) Pediatr Transplant , vol.17 , Issue.4 , pp. 328-335
    • Telega, G.1    Cronin, D.2    Avner, E.D.3
  • 86
    • 84896725214 scopus 로고    scopus 로고
    • Kidney volume and function in autosomal dominant polycystic kidney disease
    • Higashihara E, Nutahara K, Okegawa T, et al. Kidney volume and function in autosomal dominant polycystic kidney disease. Clin Exp Nephrol. 2014;18(1)157-165 doi:10.1007/s10157-013-0834-4doi:10.1007/s10157-013-0834-4
    • (2014) Clin Exp Nephrol , vol.18 , Issue.1 , pp. 157-165
    • Higashihara, E.1    Nutahara, K.2    Okegawa, T.3
  • 87
    • 33646678189 scopus 로고    scopus 로고
    • Volume progression in polycystic kidney disease
    • Grantham JJ, Torres VE, Chapman AB, et al; CRISP Investigators. Volume progression in polycystic kidney disease. N Engl J Med. 2006;354(20):2122-2130 doi: 10.1056/NEJMoa054341
    • (2006) N Engl J Med , vol.354 , Issue.20 , pp. 2122-2130
    • Grantham, J.J.1    Torres, V.E.2    Chapman, A.B.3
  • 89
    • 0028931119 scopus 로고
    • Autosomal recessive polycystic kidney disease: Long-term sonographic findings in patients surviving the neonatal period
    • Blickman JG, Bramson RT, Herrin JT. Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period. AJR Am J Roentgenol. 1995;164(5):1247-1250 doi:10.2214/ajr.164.5.7717240
    • (1995) AJR Am J Roentgenol , vol.164 , Issue.5 , pp. 1247-1250
    • Blickman, J.G.1    Bramson, R.T.2    Herrin, J.T.3
  • 90
    • 0015086440 scopus 로고
    • Infantile polycystic disease of the kidneys and liver: Clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis
    • Lieberman E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN, Landing BH. Infantile polycystic disease of the kidneys and liver: clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore). 1971;50(4):277-318
    • (1971) Medicine (Baltimore) , vol.50 , Issue.4 , pp. 277-318
    • Lieberman, E.1    Salinas-Madrigal, L.2    Gwinn, J.L.3    Brennan, L.P.4    Fine, R.N.5    Landing, B.H.6
  • 91
    • 0036955931 scopus 로고    scopus 로고
    • Hereditary polycystic kidney diseases in children: Changing sonographic patterns through childhood
    • Avni FE, Guissard G, Hall M, Janssen F, DeMaertelaer V, Rypens F. Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol. 2002;32(3):169-174
    • (2002) Pediatr Radiol , vol.32 , Issue.3 , pp. 169-174
    • Avni, F.E.1    Guissard, G.2    Hall, M.3    Janssen, F.4    Demaertelaer, V.5    Rypens, F.6
  • 92
    • 1442329985 scopus 로고    scopus 로고
    • Complementary role of MRI after sonography in assessing bilateral urinary tract anomalies in the fetus
    • Cassart M, Massez A, Metens T, et al. Complementary role of MRI after sonography in assessing bilateral urinary tract anomalies in the fetus. AJR Am J Roentgenol. 2004;182(3):689-695 doi:10.2214/ajr.182.3.1820689
    • (2004) AJR Am J Roentgenol , vol.182 , Issue.3 , pp. 689-695
    • Cassart, M.1    Massez, A.2    Metens, T.3
  • 93
    • 0034071205 scopus 로고    scopus 로고
    • Appearance of autosomal recessive polycystic kidney disease in magnetic resonance imaging and RARE-MR-urography
    • Kern S, Zimmerhackl LB, Hildebrandt F, Ermisch-Omran B, Uhl M. Appearance of autosomal recessive polycystic kidney disease in magnetic resonance imaging and RARE-MR-urography. Pediatr Radiol. 2000;30(3):156-160
    • (2000) Pediatr Radiol , vol.30 , Issue.3 , pp. 156-160
    • Kern, S.1    Zimmerhackl, L.B.2    Hildebrandt, F.3    Ermisch-Omran, B.4    Uhl, M.5
  • 94
    • 84893917734 scopus 로고    scopus 로고
    • The role of ultrasound elastographic techniques in chronic liver disease: Current status and future perspectives
    • Piscaglia F, Marinelli S, Bota S, et al. The role of ultrasound elastographic techniques in chronic liver disease: current status and future perspectives. Eur J Radiol. 2014;83: 450-455 doi:10.1016/j.ejrad.2013.06.009doi: 10.1016/j.ejrad.2013.06.009
    • (2014) Eur J Radiol , vol.83 , pp. 450-455
    • Piscaglia, F.1    Marinelli, S.2    Bota, S.3
  • 95
    • 79954436105 scopus 로고    scopus 로고
    • Liver fibrosis in recessive multicystic kidney diseases: Transient elastography for early detection
    • Kummer S, Sagir A, Pandey S, et al. Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection. Pediatr Nephrol. 2011;26(5): 725-731 doi:10.1007/s00467-011-1771-7
    • (2011) Pediatr Nephrol , vol.26 , Issue.5 , pp. 725-731
    • Kummer, S.1    Sagir, A.2    Pandey, S.3
  • 96
    • 77955837313 scopus 로고    scopus 로고
    • End-stage renal disease due to ARPKD in the first months of life: Transplantation or dialysis?-two case reports
    • Beil S, Drube J, Gluer S, Lehner F, Ehrich JHH, Pape L. End-stage renal disease due to ARPKD in the first months of life: transplantation or dialysis?-two case reports. Pediatr Transplant. 2010;14(6):E75-E78 doi: 10.1111/j.1399-3046.2009.01167.x
    • (2010) Pediatr Transplant , vol.14 , Issue.6 , pp. E75-E78
    • Beil, S.1    Drube, J.2    Gluer, S.3    Lehner, F.4    Ehrich, J.H.H.5    Pape, L.6
  • 98
    • 0142054934 scopus 로고    scopus 로고
    • Survival of childhood polycystic kidney disease following renal transplantation: The impact of advanced hepatobiliary disease
    • Davis ID, Ho M, Hupertz V, Avner ED. Survival of childhood polycystic kidney disease following renal transplantation: the impact of advanced hepatobiliary disease. Pediatr Transplant. 2003;7(5):364-369
    • (2003) Pediatr Transplant , vol.7 , Issue.5 , pp. 364-369
    • Davis, I.D.1    Ho, M.2    Hupertz, V.3    Avner, E.D.4
  • 99
    • 84871897180 scopus 로고    scopus 로고
    • Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: A multicentric study
    • Chapal M, Dufay A, Roussey G, et al. Kidney and liver transplantation in patients with autosomal recessive polycystic kidney disease: a multicentric study. Nephrol Dial Transplant. 2012;27(5):2083-2088 doi: 10.1093/ndt/gfr588doi:10.1093/ndt/gfr588
    • (2012) Nephrol Dial Transplant , vol.27 , Issue.5 , pp. 2083-2088
    • Chapal, M.1    Dufay, A.2    Roussey, G.3
  • 100
    • 0036556216 scopus 로고    scopus 로고
    • Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease
    • Khan K, Schwarzenberg SJ, Sharp HL, Matas AJ, Chavers BM. Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease. Am J Transplant. 2002;2(4):360-365
    • (2002) Am J Transplant , vol.2 , Issue.4 , pp. 360-365
    • Khan, K.1    Schwarzenberg, S.J.2    Sharp, H.L.3    Matas, A.J.4    Chavers, B.M.5
  • 101
    • 74949119796 scopus 로고    scopus 로고
    • Report of the first international liver transplantation society expert panel consensus conference on renal insufficiency in liver transplantation
    • Charlton MR, Wall WJ, Ojo AO, et al; International Liver Transplantation Society Expert Panel. Report of the first international liver transplantation society expert panel consensus conference on renal insufficiency in liver transplantation. Liver Transpl. 2009;15(11):S1-S34 doi:10.1002/lt.21877
    • (2009) Liver Transpl , vol.15 , Issue.11 , pp. S1-S34
    • Charlton, M.R.1    Wall, W.J.2    Ojo, A.O.3
  • 102
    • 53749099347 scopus 로고    scopus 로고
    • Proceedings of Consensus Conference on Simultaneous Liver Kidney Transplantation (SLK)
    • Eason JD, Gonwa TA, Davis CL, Sung RS, Gerber D, Bloom RD. Proceedings of Consensus Conference on Simultaneous Liver Kidney Transplantation (SLK). Am J Transplant. 2008;8(11):2243-2251 doi:10.1111/j.1600-6143.2008.02416.x
    • (2008) Am J Transplant , vol.8 , Issue.11 , pp. 2243-2251
    • Eason, J.D.1    Gonwa, T.A.2    Davis, C.L.3    Sung, R.S.4    Gerber, D.5    Bloom, R.D.6
  • 103
    • 84878016968 scopus 로고    scopus 로고
    • Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): Indication and outcome
    • Brinkert F, Lehnhardt A, Montoya C, et al. Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. Transpl Int. 2013;26(6):640-650 doi:10.1111/tri.12098
    • (2013) Transpl Int , vol.26 , Issue.6 , pp. 640-650
    • Brinkert, F.1    Lehnhardt, A.2    Montoya, C.3
  • 104
    • 0037743728 scopus 로고    scopus 로고
    • Recombinant human growth hormone therapy in autosomal recessive polycystic kidney disease
    • Lilova M, Kaplan BS, Meyers KE. Recombinant human growth hormone therapy in autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2003;18(1):57-61 doi:10.1007/s00467-002-0986-z
    • (2003) Pediatr Nephrol , vol.18 , Issue.1 , pp. 57-61
    • Lilova, M.1    Kaplan, B.S.2    Meyers, K.E.3
  • 105
    • 0028801247 scopus 로고
    • Body growth in children with polycystic kidney disease. Arbeitsgemeinschaft für Pädiatrische Nephrologie
    • Konrad M, Zerres K, Wühl E, Rudnik-Schöneborn S, Holtkamp U, Schärer K. Body growth in children with polycystic kidney disease. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Acta Paediatr. 1995;84(11):1227-1232
    • (1995) Acta Paediatr , vol.84 , Issue.11 , pp. 1227-1232
    • Konrad, M.1    Zerres, K.2    Wühl, E.3    Rudnik-Schöneborn, S.4    Holtkamp, U.5    Schärer, K.6
  • 106
    • 80051556387 scopus 로고    scopus 로고
    • Neurocognitive functioning of children and adolescents with mild-to-moderate chronic kidney disease
    • Hooper SR, Gerson AC, Butler RW, et al. Neurocognitive functioning of children and adolescents with mild-to-moderate chronic kidney disease. Clin J Am Soc Nephrol. 2011;6(8):1824-1830 doi:10.2215/CJN.09751110
    • (2011) Clin J Am Soc Nephrol , vol.6 , Issue.8 , pp. 1824-1830
    • Hooper, S.R.1    Gerson, A.C.2    Butler, R.W.3
  • 107
    • 80051554809 scopus 로고    scopus 로고
    • Casual blood pressure and neurocognitive function in children with chronic kidney disease: A report of the children with chronic kidney disease cohort study
    • Lande MB, Gerson AC, Hooper SR, et al. Casual blood pressure and neurocognitive function in children with chronic kidney disease: a report of the children with chronic kidney disease cohort study. Clin J Am Soc Nephrol. 2011;6(8):1831-1837 doi:10.2215/CJN.00810111
    • (2011) Clin J Am Soc Nephrol , vol.6 , Issue.8 , pp. 1831-1837
    • Lande, M.B.1    Gerson, A.C.2    Hooper, S.R.3
  • 108
    • 84876289805 scopus 로고    scopus 로고
    • Primary hypertension and neurocognitive and executive functioning in school-age children
    • Kupferman JC, Lande MB, Adams HR, Pavlakis SG. Primary hypertension and neurocognitive and executive functioning in school-age children. Pediatr Nephrol. 2013;28(3):401-408 doi:10.1007/s00467-012-2215-8
    • (2013) Pediatr Nephrol , vol.28 , Issue.3 , pp. 401-408
    • Kupferman, J.C.1    Lande, M.B.2    Adams, H.R.3    Pavlakis, S.G.4
  • 109
    • 84861872150 scopus 로고    scopus 로고
    • Neurocognitive alterations in hypertensive children and adolescents
    • Lande MB, Kupferman JC, Adams HR. Neurocognitive alterations in hypertensive children and adolescents. J Clin Hypertens (Greenwich). 2012;14(6):353-359 doi: 10.1111/j.1751-7176.2012.00661.x
    • (2012) J Clin Hypertens (Greenwich) , vol.14 , Issue.6 , pp. 353-359
    • Lande, M.B.1    Kupferman, J.C.2    Adams, H.R.3
  • 110
    • 84925623273 scopus 로고    scopus 로고
    • Executive function and cerebrovascular reactivity in pediatric hypertension [published online ahead of print July 22, 2013]
    • Ostrovskaya MA, Rojas M, Kupferman JC, et al. Executive function and cerebrovascular reactivity in pediatric hypertension [published online ahead of print July 22, 2013]. J Child Neurol doi: 10.1177/0883073813494264doi:10.1177/0883073813494264
    • J Child Neurol
    • Ostrovskaya, M.A.1    Rojas, M.2    Kupferman, J.C.3
  • 111
    • 78649655188 scopus 로고    scopus 로고
    • Learning and attention problems among children with pediatric primary hypertension
    • Adams HR, Szilagyi PG, Gebhardt L, Lande MB. Learning and attention problems among children with pediatric primary hypertension. Pediatrics. 2010;126(6). Available at: www.pediatrics.org/cgi/content/full/126/6/e1425 doi:10.1542/peds.2010-1899
    • (2010) Pediatrics , vol.126 , Issue.6
    • Adams, H.R.1    Szilagyi, P.G.2    Gebhardt, L.3    Lande, M.B.4
  • 112
    • 84939894064 scopus 로고    scopus 로고
    • Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD Cohort Study [published online ahead of print May 15, 2014]
    • Hartung EA, Matheson M, Lande MB, et al. Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD Cohort Study [published online ahead of print May 15, 2014]. Pediatr Nephrol doi:10.1007/s00467-014-2816-5
    • Pediatr Nephrol
    • Hartung, E.A.1    Matheson, M.2    Lande, M.B.3
  • 113
    • 76049115575 scopus 로고    scopus 로고
    • Health-related quality of life of children with mild to moderate chronic kidney disease
    • Gerson AC, Wentz A, Abraham AG, et al. Health-related quality of life of children with mild to moderate chronic kidney disease. Pediatrics. 2010;125(2). Available at: www.pediatrics.org/cgi/content/full/125/2/e349 doi:10.1542/peds.2009-0085
    • (2010) Pediatrics , vol.125 , Issue.2
    • Gerson, A.C.1    Wentz, A.2    Abraham, A.G.3
  • 114
    • 84875842006 scopus 로고    scopus 로고
    • Health-related quality of life functioning over a 2-year period in children with end-stage renal disease
    • Neul SK, Minard CG, Currier H, Goldstein SL. Health-related quality of life functioning over a 2-year period in children with end-stage renal disease. Pediatr Nephrol. 2013;28(2):285-293 doi:10.1007/s00467-012-2313-7
    • (2013) Pediatr Nephrol , vol.28 , Issue.2 , pp. 285-293
    • Neul, S.K.1    Minard, C.G.2    Currier, H.3    Goldstein, S.L.4
  • 115
    • 77951967599 scopus 로고    scopus 로고
    • The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease
    • Becker JU, Opazo Saez A, Zerres K, et al. The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease. Kidney Blood Press Res. 2010;33(2):129-138 doi:10.1159/000314380
    • (2010) Kidney Blood Press Res , vol.33 , Issue.2 , pp. 129-138
    • Becker, J.U.1    Opazo Saez, A.2    Zerres, K.3
  • 116
    • 67651100822 scopus 로고    scopus 로고
    • Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD)
    • Fischer D-C, Jacoby U, Pape L, et al. Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD). Nephrol Dial Transplant. 2009;24 (6):1819-1827 doi:10.1093/ndt/gfn744
    • (2009) Nephrol Dial Transplant , vol.24 , Issue.6 , pp. 1819-1827
    • Fischer, D.-C.1    Jacoby, U.2    Pape, L.3
  • 117
    • 78349246353 scopus 로고    scopus 로고
    • Inhibition of mTOR with sirolimus does not attenuate progression of liver and kidney disease in PCK rats
    • Renken C, Fischer DC, Kundt G, Gretz N, Haffner D. Inhibition of mTOR with sirolimus does not attenuate progression of liver and kidney disease in PCK rats. Nephrol Dial Transplant. 2011;26(1):92-100 doi:10.1093/ndt/gfq384
    • (2011) Nephrol Dial Transplant , vol.26 , Issue.1 , pp. 92-100
    • Renken, C.1    Fischer, D.C.2    Kundt, G.3    Gretz, N.4    Haffner, D.5
  • 118
    • 77956029702 scopus 로고    scopus 로고
    • Sirolimus and kidney growth in autosomal dominant polycystic kidney disease
    • Serra AL, Poster D, Kistler AD, et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363(9):820-829 doi:10.1056/NEJMoa0907419
    • (2010) N Engl J Med , vol.363 , Issue.9 , pp. 820-829
    • Serra, A.L.1    Poster, D.2    Kistler, A.D.3
  • 119
    • 77956035166 scopus 로고    scopus 로고
    • Everolimus in patients with autosomal dominant polycystic kidney disease
    • Walz G, Budde K, Mannaa M, et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363 (9):830-840 doi:10.1056/NEJMoa1003491
    • (2010) N Engl J Med , vol.363 , Issue.9 , pp. 830-840
    • Walz, G.1    Budde, K.2    Mannaa, M.3
  • 120
    • 33644859253 scopus 로고    scopus 로고
    • Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD)
    • Wahl PR, Serra AL, Le Hir M, Molle KD, Hall MN, Wüthrich RP. Inhibition of mTOR with sirolimus slows disease progression in Han:SPRD rats with autosomal dominant polycystic kidney disease (ADPKD). Nephrol Dial Transplant. 2006;21(3):598-604 doi:10.1093/ndt/gfi181
    • (2006) Nephrol Dial Transplant , vol.21 , Issue.3 , pp. 598-604
    • Wahl, P.R.1    Serra, A.L.2    Le Hir, M.3    Molle, K.D.4    Hall, M.N.5    Wüthrich, R.P.6
  • 121
    • 42449089027 scopus 로고    scopus 로고
    • Sirolimus ameliorates the enhanced expression of metalloproteinases in a rat model of autosomal dominant polycystic kidney disease
    • Berthier CC, Wahl PR, Le Hir M, et al. Sirolimus ameliorates the enhanced expression of metalloproteinases in a rat model of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 2008;23(3):880-889 doi:10.1093/ndt/gfm697
    • (2008) Nephrol Dial Transplant , vol.23 , Issue.3 , pp. 880-889
    • Berthier, C.C.1    Wahl, P.R.2    Le Hir, M.3
  • 122
    • 77949887674 scopus 로고    scopus 로고
    • Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1
    • Shillingford JM, Piontek KB, Germino GG, Weimbs T. Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1. J Am Soc Nephrol. 2010;21(3):489-497 doi:10.1681/ASN.2009040421
    • (2010) J Am Soc Nephrol , vol.21 , Issue.3 , pp. 489-497
    • Shillingford, J.M.1    Piontek, K.B.2    Germino, G.G.3    Weimbs, T.4
  • 123
    • 33645769011 scopus 로고    scopus 로고
    • The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease
    • Shillingford JM, Murcia NS, Larson CH, et al. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci USA. 2006;103(14):5466-5471 doi:10.1073/pnas.0509694103
    • (2006) Proc Natl Acad Sci USA , vol.103 , Issue.14 , pp. 5466-5471
    • Shillingford, J.M.1    Murcia, N.S.2    Larson, C.H.3
  • 124
    • 18744380752 scopus 로고    scopus 로고
    • Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease
    • Tao Y, Kim J, Schrier RW, Edelstein CL. Rapamycin markedly slows disease progression in a rat model of polycystic kidney disease. J Am Soc Nephrol. 2005;16(1): 46-51 doi:10.1681/ASN.2004080660
    • (2005) J Am Soc Nephrol , vol.16 , Issue.1 , pp. 46-51
    • Tao, Y.1    Kim, J.2    Schrier, R.W.3    Edelstein, C.L.4
  • 125
    • 0034126459 scopus 로고    scopus 로고
    • CAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway
    • Yamaguchi T, Pelling JC, Ramaswamy NT, et al. cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway. Kidney Int. 2000;57(4):1460-1471 doi:10.1046/j.1523-1755.2000.00991.x
    • (2000) Kidney Int , vol.57 , Issue.4 , pp. 1460-1471
    • Yamaguchi, T.1    Pelling, J.C.2    Ramaswamy, N.T.3
  • 126
    • 0034123281 scopus 로고    scopus 로고
    • CAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells
    • Hanaoka K, Guggino WB. cAMP regulates cell proliferation and cyst formation in autosomal polycystic kidney disease cells. J Am Soc Nephrol. 2000;11(7):1179-1187
    • (2000) J Am Soc Nephrol , vol.11 , Issue.7 , pp. 1179-1187
    • Hanaoka, K.1    Guggino, W.B.2
  • 127
    • 0037513435 scopus 로고    scopus 로고
    • Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys
    • Yamaguchi T, Nagao S, Wallace DP, et al. Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys. Kidney Int. 2003;63(6):1983-1994 doi: 10.1046/j.1523-1755.2003.00023.x
    • (2003) Kidney Int , vol.63 , Issue.6 , pp. 1983-1994
    • Yamaguchi, T.1    Nagao, S.2    Wallace, D.P.3
  • 128
    • 4344588934 scopus 로고    scopus 로고
    • Cyclic AMP promotes growth and secretion in human polycystic kidney epithelial cells
    • Belibi FA, Reif G, Wallace DP, et al. Cyclic AMP promotes growth and secretion in human polycystic kidney epithelial cells. Kidney Int. 2004;66(3):964-973 doi:10.1111/j.1523-1755.2004.00843.x
    • (2004) Kidney Int , vol.66 , Issue.3 , pp. 964-973
    • Belibi, F.A.1    Reif, G.2    Wallace, D.P.3
  • 129
    • 4644367485 scopus 로고    scopus 로고
    • Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype
    • Yamaguchi T, Wallace DP, Magenheimer BS, Hempson SJ, Grantham JJ, Calvet JP. Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype. J Biol Chem. 2004;279(39):40419-40430 doi:10.1074/jbc.M405079200
    • (2004) J Biol Chem , vol.279 , Issue.39 , pp. 40419-40430
    • Yamaguchi, T.1    Wallace, D.P.2    Magenheimer, B.S.3    Hempson, S.J.4    Grantham, J.J.5    Calvet, J.P.6
  • 130
    • 33645456243 scopus 로고    scopus 로고
    • Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells
    • Yamaguchi T, Hempson SJ, Reif GA, Hedge A-M, Wallace DP. Calcium restores a normal proliferation phenotype in human polycystic kidney disease epithelial cells. J Am Soc Nephrol. 2006;17(1):178-187 doi: 10.1681/ASN.2005060645
    • (2006) J Am Soc Nephrol , vol.17 , Issue.1 , pp. 178-187
    • Yamaguchi, T.1    Hempson, S.J.2    Reif, G.A.3    Hedge, A.-M.4    Wallace, D.P.5
  • 131
    • 0031835665 scopus 로고    scopus 로고
    • Regulation of cAMP production in initial and terminal inner medullary collecting ducts
    • Yasuda G, Jeffries WB. Regulation of cAMP production in initial and terminal inner medullary collecting ducts. Kidney Int. 1998;54(1):80-86 doi:10.1046/j.1523-1755.1998.00990.x
    • (1998) Kidney Int , vol.54 , Issue.1 , pp. 80-86
    • Yasuda, G.1    Jeffries, W.B.2
  • 132
    • 0142073812 scopus 로고    scopus 로고
    • Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist
    • Gattone VH 2nd, Wang X, Harris PC, Torres VE. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med. 2003;9(10):1323-1326 doi:10.1038/nm935
    • (2003) Nat Med , vol.9 , Issue.10 , pp. 1323-1326
    • Gattone, V.H.1    Wang, X.2    Harris, P.C.3    Torres, V.E.4
  • 133
    • 38149005366 scopus 로고    scopus 로고
    • Vasopressin directly regulates cyst growth in polycystic kidney disease
    • Wang X, Wu Y, Ward CJ, Harris PC, Torres VE. Vasopressin directly regulates cyst growth in polycystic kidney disease. J Am Soc Nephrol. 2008;19(1):102-108 doi: 10.1681/ASN.2007060688
    • (2008) J Am Soc Nephrol , vol.19 , Issue.1 , pp. 102-108
    • Wang, X.1    Wu, Y.2    Ward, C.J.3    Harris, P.C.4    Torres, V.E.5
  • 134
    • 84871303897 scopus 로고    scopus 로고
    • TEMPO 3:4 Trial Investigators. Tolvaptan in patients with autosomal dominant polycystic kidney disease
    • Torres VE, Chapman AB, Devuyst O, et al; TEMPO 3:4 Trial Investigators. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012;367(25): 2407-2418 doi:10.1056/NEJMoa1205511
    • (2012) N Engl J Med , vol.367 , Issue.25 , pp. 2407-2418
    • Torres, V.E.1    Chapman, A.B.2    Devuyst, O.3
  • 135
    • 84879601778 scopus 로고    scopus 로고
    • Pasireotide is more effective than octreotide in reducing hepatorenal cystogenesis in rodents with polycystic kidney and liver diseases
    • Masyuk TV, Radtke BN, Stroope AJ, et al. Pasireotide is more effective than octreotide in reducing hepatorenal cystogenesis in rodents with polycystic kidney and liver diseases. Hepatology. 2013;58(1): 409-421 doi:10.1002/hep.26140
    • (2013) Hepatology , vol.58 , Issue.1 , pp. 409-421
    • Masyuk, T.V.1    Radtke, B.N.2    Stroope, A.J.3
  • 136
    • 84886792613 scopus 로고    scopus 로고
    • ALADIN study group. Effect of longacting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): A randomised, placebocontrolled, multicentre trial
    • Caroli A, Perico N, Perna A, et al; ALADIN study group. Effect of longacting somatostatin analogue on kidney and cyst growth in autosomal dominant polycystic kidney disease (ALADIN): a randomised, placebocontrolled, multicentre trial. Lancet. 2013; 382(9903):1485-1495 doi:10.1016/S0140-6736(13)61407-5
    • (2013) Lancet , vol.382 , Issue.9903 , pp. 1485-1495
    • Caroli, A.1    Perico, N.2    Perna, A.3
  • 137
    • 33749244433 scopus 로고    scopus 로고
    • Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)
    • Sweeney WE Jr, Avner ED. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). Cell Tissue Res. 2006;326(3):671-685 doi: 10.1007/s00441-006-0226-0
    • (2006) Cell Tissue Res , vol.326 , Issue.3 , pp. 671-685
    • Sweeney, W.E.1    Avner, E.D.2
  • 138
    • 0034799491 scopus 로고    scopus 로고
    • A novel inhibitor of tumor necrosis factor-alpha converting enzyme ameliorates polycystic kidney disease
    • Dell KM, Nemo R, Sweeney WE Jr, Levin JI, Frost P, Avner ED. A novel inhibitor of tumor necrosis factor-alpha converting enzyme ameliorates polycystic kidney disease. Kidney Int. 2001;60(4):1240-1248 doi:10.1046/j.1523-1755.2001.00963.x
    • (2001) Kidney Int , vol.60 , Issue.4 , pp. 1240-1248
    • Dell, K.M.1    Nemo, R.2    Sweeney, W.E.3    Levin, J.I.4    Frost, P.5    Avner, E.D.6
  • 139
    • 0141451943 scopus 로고    scopus 로고
    • Combination treatment of PKD utilizing dual inhibition of EGF-receptor activity and ligand bioavailability
    • Sweeney WE Jr, Hamahira K, Sweeney J, Garcia-Gatrell M, Frost P, Avner ED. Combination treatment of PKD utilizing dual inhibition of EGF-receptor activity and ligand bioavailability. Kidney Int. 2003;64(4):1310-1319 doi:10.1046/j.1523-1755.2003.00232.x
    • (2003) Kidney Int , vol.64 , Issue.4 , pp. 1310-1319
    • Sweeney, W.E.1    Hamahira, K.2    Sweeney, J.3    Garcia-Gatrell, M.4    Frost, P.5    Avner, E.D.6
  • 140
    • 11144226388 scopus 로고    scopus 로고
    • Activation of the MEK5/ERK5 cascade is responsible for biliary dysgenesis in a rat model of Caroli's disease
    • Sato Y, Harada K, Kizawa K, et al. Activation of the MEK5/ERK5 cascade is responsible for biliary dysgenesis in a rat model of Caroli's disease. Am J Pathol. 2005;166(1): 49-60 doi:10.1016/S0002-9440(10)62231-6
    • (2005) Am J Pathol , vol.166 , Issue.1 , pp. 49-60
    • Sato, Y.1    Harada, K.2    Kizawa, K.3
  • 141
    • 0033995015 scopus 로고    scopus 로고
    • Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor
    • Sweeney WE, Chen Y, Nakanishi K, Frost P, Avner ED. Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor. Kidney Int. 2000;57(1):33-40 doi: 10.1046/j.1523-1755.2000.00829.x
    • (2000) Kidney Int , vol.57 , Issue.1 , pp. 33-40
    • Sweeney, W.E.1    Chen, Y.2    Nakanishi, K.3    Frost, P.4    Avner, E.D.5
  • 142
    • 48149104099 scopus 로고    scopus 로고
    • Src inhibition ameliorates polycystic kidney disease
    • Sweeney WE Jr, von Vigier RO, Frost P, Avner ED. Src inhibition ameliorates polycystic kidney disease. J Am Soc Nephrol. 2008;19 (7):1331-1341 doi:10.1681/ASN.2007060665
    • (2008) J Am Soc Nephrol , vol.19 , Issue.7 , pp. 1331-1341
    • Sweeney, W.E.1    Von Vigier, R.O.2    Frost, P.3    Avner, E.D.4
  • 143
    • 84882840385 scopus 로고    scopus 로고
    • Polycystic kidney disease
    • Lifton RP. Somlo S, Giebisch GH, Seldin DW, eds. Burlington, MA: Elsevier
    • Somlo S, Guay-Woodford LM. Polycystic kidney disease. In: Lifton RP, Somlo S, Giebisch GH, Seldin DW, eds. Genetic Diseases of the Kidney. Burlington, MA: Elsevier; 2009:393-424
    • (2009) Genetic Diseases of the Kidney , pp. 393-424
    • Somlo, S.1    Guay-Woodford, L.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.