메뉴 건너뛰기




Volumn 31, Issue 1, 2011, Pages 35-43

Molecular diagnosis of autosomal dominant polycystic kidney disease;Diagnóstico molecular de la poliquistosis renal autosómica dominante

Author keywords

ADPKD; Autosomal dominant polycystic kidney disease; Genetic diagnosis; Mutations; PKD1; PKD2

Indexed keywords

MESSENGER RNA; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIC KIDNEY DISEASE 2 PROTEIN; POLYCYSTIN;

EID: 79751500186     PISSN: 02116995     EISSN: None     Source Type: Journal    
DOI: 10.3265/Nefrologia.pre2010.Nov.10727     Document Type: Review
Times cited : (14)

References (41)
  • 1
  • 3
    • 0029445828 scopus 로고
    • Interfamilial and intrafamilial variability of clinical expression in ADPKD
    • Torra R, Darnell A, Estivill X, Botey A, Revert L. Interfamilial and intrafamilial variability of clinical expression in ADPKD. Contrib Nephrol 1995;115:97-101.
    • (1995) Contrib Nephrol , vol.115 , pp. 97-101
    • Torra, R.1    Darnell, A.2    Estivill, X.3    Botey, A.4    Revert, L.5
  • 4
    • 0029069583 scopus 로고
    • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
    • Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millan JL, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995;10(2):151-60.
    • (1995) Nat Genet , vol.10 , Issue.2 , pp. 151-160
    • Hughes, J.1    Ward, C.J.2    Peral, B.3    Aspinwall, R.4    Clark, K.5    San Millan, J.L.6
  • 5
    • 15844385078 scopus 로고    scopus 로고
    • PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
    • Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 1996;272(5266):1339-42.
    • (1996) Science , vol.272 , Issue.5266 , pp. 1339-1342
    • Mochizuki, T.1    Wu, G.2    Hayashi, T.3    Xenophontos, S.L.4    Veldhuisen, B.5    Saris, J.J.6
  • 6
    • 0030391397 scopus 로고    scopus 로고
    • Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2
    • Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L, et al. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J Am Soc Nephrol 1996;7(10):2142-51.
    • (1996) J Am Soc Nephrol , vol.7 , Issue.10 , pp. 2142-2151
    • Torra, R.1    Badenas, C.2    Darnell, A.3    Nicolau, C.4    Volpini, V.5    Revert, L.6
  • 7
    • 0033537164 scopus 로고    scopus 로고
    • Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group
    • Hateboer N, Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet 1999;353(9147):103-7.
    • (1999) Lancet , vol.353 , Issue.9147 , pp. 103-107
    • Hateboer, N.1    Dijk, M.A.2    Bogdanova, N.3    Coto, E.4    Saggar-Malik, A.K.5    San Millan, J.L.6
  • 9
    • 0033815040 scopus 로고    scopus 로고
    • Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients
    • Torra R, Badenas C, Pérez-Oller L, Luis J, Millán S, Nicolau C, et al. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. Am J Kidney Dis 2000;36(4):728-34.
    • (2000) Am J Kidney Dis , vol.36 , Issue.4 , pp. 728-734
    • Torra, R.1    Badenas, C.2    Pérez-Oller, L.3    Luis, J.4    Millán, S.5    Nicolau, C.6
  • 10
    • 0029069583 scopus 로고
    • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
    • Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millan JL, et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet 1995;10(2):151-60.
    • (1995) Nat Genet , vol.10 , Issue.2 , pp. 151-160
    • Hughes, J.1    Ward, C.J.2    Peral, B.3    Aspinwall, R.4    Clark, K.5    San Millan, J.L.6
  • 11
    • 0029002967 scopus 로고
    • Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium
    • Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. Cell 1995;81(2):289-98.
    • (1995) Cell , vol.81 , Issue.2 , pp. 289-298
  • 14
    • 0035028683 scopus 로고    scopus 로고
    • Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples
    • Phakdeekitcharoen B, Watnick TJ, Germino GG. Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol 2001;12(5):955-63.
    • (2001) J Am Soc Nephrol , vol.12 , Issue.5 , pp. 955-963
    • Phakdeekitcharoen, B.1    Watnick, T.J.2    Germino, G.G.3
  • 15
    • 16944366176 scopus 로고    scopus 로고
    • A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
    • Veldhuisen B, Saris JJ, De Haij S, Hayashi T, Reynolds DM, Mochizuki T, et al. A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Am J Hum Genet 1997;61(3):547-55.
    • (1997) Am J Hum Genet , vol.61 , Issue.3 , pp. 547-555
    • Veldhuisen, B.1    Saris, J.J.2    De Haij, S.3    Hayashi, T.4    Reynolds, D.M.5    Mochizuki, T.6
  • 16
    • 0037317302 scopus 로고    scopus 로고
    • Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
    • Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet 2003;33(2):129-37.
    • (2003) Nat Genet , vol.33 , Issue.2 , pp. 129-137
    • Nauli, S.M.1    Alenghat, F.J.2    Luo, Y.3    Williams, E.4    Vassilev, P.5    Li, X.6
  • 18
    • 50849100989 scopus 로고    scopus 로고
    • Loss of polycystin-1 causes centrosome amplification and genomic instability
    • Battini L, Macip S, Fedorova E, Dikman S, Somlo S, Montagna C, et al. Loss of polycystin-1 causes centrosome amplification and genomic instability. Hum Mol Genet 2008;17(18):2819-33.
    • (2008) Hum Mol Genet , vol.17 , Issue.18 , pp. 2819-2833
    • Battini, L.1    Macip, S.2    Fedorova, E.3    Dikman, S.4    Somlo, S.5    Montagna, C.6
  • 19
    • 28544433252 scopus 로고    scopus 로고
    • Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loophelix inhibitor Id2
    • Li X, Luo Y, Starremans PG, McNamara CA, Pei Y, Zhou J. Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loophelix inhibitor Id2. Nat Cell Biol 2005;7(12):1202-12.
    • (2005) Nat Cell Biol , vol.7 , Issue.12 , pp. 1202-1212
    • Li, X.1    Luo, Y.2    Starremans, P.G.3    McNamara, C.A.4    Pei, Y.5    Zhou, J.6
  • 20
    • 67649884993 scopus 로고    scopus 로고
    • Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways
    • Happe H, Leonhard WN, Van der WA, Van de WB, Lantinga-Van L, I, Breuning MH, et al. Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways. Hum Mol Genet 2009;18(14):2532-42.
    • (2009) Hum Mol Genet , vol.18 , Issue.14 , pp. 2532-2542
    • Happe, H.1    Leonhard, W.N.2    Van der, W.A.3    Van de, W.B.4    Lantinga-Van, L.I.5    Breuning, M.H.6
  • 21
    • 0028351429 scopus 로고
    • Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
    • Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P, Danks DM. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994;343(8901):824-7.
    • (1994) Lancet , vol.343 , Issue.8901 , pp. 824-827
    • Ravine, D.1    Gibson, R.N.2    Walker, R.G.3    Sheffield, L.J.4    Kincaid-Smith, P.5    Danks, D.M.6
  • 23
    • 56049096710 scopus 로고    scopus 로고
    • Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history
    • Reed B, McFann K, Kimberling WJ, Pei Y, Gabow PA, Christopher K, et al. Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. Am J Kidney Dis 2008;52(6):1042-50.
    • (2008) Am J Kidney Dis , vol.52 , Issue.6 , pp. 1042-1050
    • Reed, B.1    McFann, K.2    Kimberling, W.J.3    Pei, Y.4    Gabow, P.A.5    Christopher, K.6
  • 24
    • 0035171856 scopus 로고    scopus 로고
    • Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications
    • Rossetti S, Strmecki L, Gamble V, Burton S, Sneddon V, Peral B, et al. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet 2001;68(1):46-63.
    • (2001) Am J Hum Genet , vol.68 , Issue.1 , pp. 46-63
    • Rossetti, S.1    Strmecki, L.2    Gamble, V.3    Burton, S.4    Sneddon, V.5    Peral, B.6
  • 25
    • 71149119200 scopus 로고    scopus 로고
    • Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis
    • Santin S, García-Maset R, Ruiz P, Giménez I, Zamora I, Pena A, et al. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int 2009;76(12):1268-76.
    • (2009) Kidney Int , vol.76 , Issue.12 , pp. 1268-1276
    • Santin, S.1    García-Maset, R.2    Ruiz, P.3    Giménez, I.4    Zamora, I.5    Pena, A.6
  • 26
    • 59749085286 scopus 로고    scopus 로고
    • Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease
    • Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, et al. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. Hum Mutat 2009;30(2):264-73.
    • (2009) Hum Mutat , vol.30 , Issue.2 , pp. 264-273
    • Tan, Y.C.1    Blumenfeld, J.D.2    Anghel, R.3    Donahue, S.4    Belenkaya, R.5    Balina, M.6
  • 28
    • 63949086532 scopus 로고    scopus 로고
    • Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease
    • Rossetti S, Kubly VJ, Consugar MB, Hopp K, Roy S, Horsley SW, et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int 2009;75(8):848-55.
    • (2009) Kidney Int , vol.75 , Issue.8 , pp. 848-855
    • Rossetti, S.1    Kubly, V.J.2    Consugar, M.B.3    Hopp, K.4    Roy, S.5    Horsley, S.W.6
  • 30
    • 0031728515 scopus 로고    scopus 로고
    • Is there a third gene for autosomal dominant polycystic kidney disease?
    • Paterson AD, Pei Y. Is there a third gene for autosomal dominant polycystic kidney disease? Kidney Int 1998;54(5):1759-61.
    • (1998) Kidney Int , vol.54 , Issue.5 , pp. 1759-1761
    • Paterson, A.D.1    Pei, Y.2
  • 31
    • 56549105426 scopus 로고    scopus 로고
    • Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome
    • Consugar MB, Wong WC, Lundquist PA, Rossetti S, Kubly VJ, Walker DL, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int 2008;74(11):1468-79.
    • (2008) Kidney Int , vol.74 , Issue.11 , pp. 1468-1479
    • Consugar, M.B.1    Wong, W.C.2    Lundquist, P.A.3    Rossetti, S.4    Kubly, V.J.5    Walker, D.L.6
  • 32
    • 37549071892 scopus 로고    scopus 로고
    • Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation
    • Connor A, Lunt PW, Dolling C, Patel Y, Meredith AL, Gardner A, et al. Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation. Am J Transplant 2008;8(1):232-7.
    • (2008) Am J Transplant , vol.8 , Issue.1 , pp. 232-237
    • Connor, A.1    Lunt, P.W.2    Dolling, C.3    Patel, Y.4    Meredith, A.L.5    Gardner, A.6
  • 33
    • 18344395119 scopus 로고    scopus 로고
    • The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease
    • Rossetti S, Burton S, Strmecki L, Pond GR, San Millan JL, Zerres K, et al. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol 2002;13(5):1230-7.
    • (2002) J Am Soc Nephrol , vol.13 , Issue.5 , pp. 1230-1237
    • Rossetti, S.1    Burton, S.2    Strmecki, L.3    Pond, G.R.4    San Millan, J.L.5    Zerres, K.6
  • 34
    • 0037830054 scopus 로고    scopus 로고
    • Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype
    • Rossetti S, Chauveau D, Kubly V, Slezak JM, Saggar-Malik AK, Pei Y, et al. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet 2003;361(9376):2196-201.
    • (2003) Lancet , vol.361 , Issue.9376 , pp. 2196-2201
    • Rossetti, S.1    Chauveau, D.2    Kubly, V.3    Slezak, J.M.4    Saggar-Malik, A.K.5    Pei, Y.6
  • 35
    • 77954598398 scopus 로고    scopus 로고
    • Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD
    • Vujic M, Heyer CM, Ars E, Hopp K, Markoff A, Orndal C, et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. J Am Soc Nephrol 2010;21(7):1097-102.
    • (2010) J Am Soc Nephrol , vol.21 , Issue.7 , pp. 1097-1102
    • Vujic, M.1    Heyer, C.M.2    Ars, E.3    Hopp, K.4    Markoff, A.5    Orndal, C.6
  • 37
    • 34447580243 scopus 로고    scopus 로고
    • Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1
    • Tazon-Vega B, Vilardell M, Perez-Oller L, Ars E, Ruiz P, Devuyst O, et al. Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1. Nephrol Dial Transplant 2007;22(6):1567-77.
    • (2007) Nephrol Dial Transplant , vol.22 , Issue.6 , pp. 1567-1577
    • Tazon-Vega, B.1    Vilardell, M.2    Perez-Oller, L.3    Ars, E.4    Ruiz, P.5    Devuyst, O.6
  • 38
    • 16244371729 scopus 로고    scopus 로고
    • Modifier genes play a significant role in the phenotypic expression of PKD1
    • Fain PR, McFann KK, Taylor MR, Tison M, Johnson AM, Reed B, et al. Modifier genes play a significant role in the phenotypic expression of PKD1. Kidney Int 2005;67(4):1256-67.
    • (2005) Kidney Int , vol.67 , Issue.4 , pp. 1256-1267
    • Fain, P.R.1    McFann, K.K.2    Taylor, M.R.3    Tison, M.4    Johnson, A.M.5    Reed, B.6
  • 39
    • 20544450640 scopus 로고    scopus 로고
    • Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease
    • Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, et al. Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2005;16(3):755-62.
    • (2005) J Am Soc Nephrol , vol.16 , Issue.3 , pp. 755-762
    • Paterson, A.D.1    Magistroni, R.2    He, N.3    Wang, K.4    Johnson, A.5    Fain, P.R.6
  • 40
    • 0033815040 scopus 로고    scopus 로고
    • Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients
    • Torra R, Badenas C, Perez-Oller L, Luis J, Millan S, Nicolau C, et al. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. Am J Kidney Dis 2000;36(4):728-34.
    • (2000) Am J Kidney Dis , vol.36 , Issue.4 , pp. 728-734
    • Torra, R.1    Badenas, C.2    Perez-Oller, L.3    Luis, J.4    Millan, S.5    Nicolau, C.6
  • 41
    • 68049138015 scopus 로고    scopus 로고
    • Family history of renal disease severity predicts the mutated gene in ADPKD
    • Barua M, Cil O, Paterson AD, Wang K, He N, Dicks E, et al. Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol 2009;20(8):1833-8.
    • (2009) J Am Soc Nephrol , vol.20 , Issue.8 , pp. 1833-1838
    • Barua, M.1    Cil, O.2    Paterson, A.D.3    Wang, K.4    He, N.5    Dicks, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.