메뉴 건너뛰기




Volumn 33, Issue 4, 2013, Pages 587-592

Nefropatía intersticial crónica familiar con hiperuricemia causada por el gen UMOD

Author keywords

[No Author keywords available]

Indexed keywords

TAMM HORSFALL GLYCOPROTEIN; UMOD PROTEIN, HUMAN;

EID: 84882936968     PISSN: 02116995     EISSN: None     Source Type: Journal    
DOI: 10.3265/Nefrologia.pre2013.Apr.11960     Document Type: Article
Times cited : (6)

References (33)
  • 1
    • 0023113789 scopus 로고
    • Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein
    • Science
    • Pennica D, Kohr WJ, Kuang WJ, Glaister D, Aggarwal BB, Chen EY, et al. Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein. Science 1987;236(4797):83-8.
    • (1987) , vol.236 , Issue.4797 , pp. 83-88
    • Pennica, D.1    Kohr, W.J.2    Kuang, W.J.3    Glaister, D.4    Aggarwal, B.B.5    Chen, E.Y.6
  • 2
    • 2342453842 scopus 로고    scopus 로고
    • Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families
    • Kidney Int
    • Kudo E, Kamatani N, Tezuka O, Taniguchi A, Yamanaka H, Yabe S, et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 2004;65(5):1589-97.
    • (2004) , vol.65 , Issue.5 , pp. 1589-1597
    • Kudo, E.1    Kamatani, N.2    Tezuka, O.3    Taniguchi, A.4    Yamanaka, H.5    Yabe, S.6
  • 3
    • 80052264182 scopus 로고    scopus 로고
    • The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease
    • Kidney Int
    • Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int 2011;80(4):338-47.
    • (2011) , vol.80 , Issue.4 , pp. 338-347
    • Rampoldi, L.1    Scolari, F.2    Amoroso, A.3    Ghiggeri, G.4    Devuyst, O.5
  • 4
    • 84862779584 scopus 로고    scopus 로고
    • Uromodulin in kidney injury: an instigator, bystander, or protector
    • Am J Kidney Dis
    • El-Achkar TM, Wu XR. Uromodulin in kidney injury: an instigator, bystander, or protector? Am J Kidney Dis 2012;59(3):452-61.
    • (2012) , vol.59 , Issue.3 , pp. 452-461
    • El-Achkar, T.M.1    Wu, X.R.2
  • 5
    • 84883048847 scopus 로고    scopus 로고
    • Enfermedad renal quística medular y nefronoptisis
    • Nefrologia
    • Coto García E. Enfermedad renal quística medular y nefronoptisis. Nefrologia 2011;2(1):74-9.
    • (2011) , vol.2 , Issue.1 , pp. 74-79
    • Coto García, E.1
  • 6
    • 79955138852 scopus 로고    scopus 로고
    • Ciliopathies
    • N Engl J Med
    • Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011;364(16):1533-43.
    • (2011) , vol.364 , Issue.16 , pp. 1533-1543
    • Hildebrandt, F.1    Benzing, T.2    Katsanis, N.3
  • 7
    • 77952478220 scopus 로고    scopus 로고
    • Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression
    • Hum Mol Genet
    • Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, et al. Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet 2010;19(10):1985-97.
    • (2010) , vol.19 , Issue.10 , pp. 1985-1997
    • Zaucke, F.1    Boehnlein, J.M.2    Steffens, S.3    Polishchuk, R.S.4    Rampoldi, L.5    Fischer, A.6
  • 8
    • 58249131395 scopus 로고    scopus 로고
    • Improving the recognition of hereditary interstitial kidney disease
    • J Am Soc Nephrol
    • Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol 2009;20(1):11-3.
    • (2009) , vol.20 , Issue.1 , pp. 11-13
    • Bleyer, A.J.1
  • 9
    • 0034786059 scopus 로고    scopus 로고
    • Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12
    • Kidney Int
    • Hateboer N, Gumbs C, Teare MD, Coles GA, Griffiths D, Ravine D, et al. Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12. Kidney Int 2001;60(4): 1233-9.
    • (2001) , vol.60 , Issue.4 , pp. 1233-9
    • Hateboer, N.1    Gumbs, C.2    Teare, M.D.3    Coles, G.A.4    Griffiths, D.5    Ravine, D.6
  • 10
    • 84859865387 scopus 로고    scopus 로고
    • [Familial juvenile hyperuricemic nephropathy]
    • Nephrol Ther
    • Hummel A. [Familial juvenile hyperuricemic nephropathy]. Nephrol Ther 2012;8(2):117-25.
    • (2012) , vol.8 , Issue.2 , pp. 117-125
    • Hummel, A.1
  • 11
    • 0034763887 scopus 로고    scopus 로고
    • Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease
    • J Am Soc Nephrol
    • Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, et al. Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? J Am Soc Nephrol 2001;12(11):2348-57.
    • (2001) , vol.12 , Issue.11 , pp. 2348-2357
    • Dahan, K.1    Fuchshuber, A.2    Adamis, S.3    Smaers, M.4    Kroiss, S.5    Loute, G.6
  • 12
    • 0036914069 scopus 로고    scopus 로고
    • Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
    • J Med Genet
    • Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002;39(12):882-92.
    • (2002) , vol.39 , Issue.12 , pp. 882-892
    • Hart, T.C.1    Gorry, M.C.2    Hart, P.S.3    Woodard, A.S.4    Shihabi, Z.5    Sandhu, J.6
  • 13
    • 9344219895 scopus 로고    scopus 로고
    • Uromodulin storage diseases: clinical aspects and mechanisms
    • Am J Kidney Dis
    • Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, et al. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis 2004;44(6):987-99.
    • (2004) , vol.44 , Issue.6 , pp. 987-999
    • Scolari, F.1    Caridi, G.2    Rampoldi, L.3    Tardanico, R.4    Izzi, C.5    Pirulli, D.6
  • 14
    • 20544476406 scopus 로고    scopus 로고
    • A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease
    • Am J Kidney Dis
    • Lens XM, Banet JF, Outeda P, Barrio-Lucia V. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis 2005;46(1):52-7.
    • (2005) , vol.46 , Issue.1 , pp. 52-57
    • Lens, X.M.1    Banet, J.F.2    Outeda, P.3    Barrio-Lucia, V.4
  • 15
    • 0031953640 scopus 로고    scopus 로고
    • Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease
    • Hum Mol Genet
    • Christodoulou K, Tsingis M, Stavrou C, Eleftheriou A, Papapavlou P, Patsalis PC, et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 1998;7(5):905-11.
    • (1998) , vol.7 , Issue.5 , pp. 905-911
    • Christodoulou, K.1    Tsingis, M.2    Stavrou, C.3    Eleftheriou, A.4    Papapavlou, P.5    Patsalis, P.C.6
  • 16
    • 0033358592 scopus 로고    scopus 로고
    • Identification of a new locus for medullary cystic disease, on chromosome 16p12
    • Am J Hum Genet
    • Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, et al. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet 1999;64(6):1655-60.
    • (1999) , vol.64 , Issue.6 , pp. 1655-1660
    • Scolari, F.1    Puzzer, D.2    Amoroso, A.3    Caridi, G.4    Ghiggeri, G.M.5    Maiorca, R.6
  • 17
    • 31644431556 scopus 로고    scopus 로고
    • Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
    • Kidney Int
    • Hodanova K, Majewski J, Kublova M, Vyletal P, Kalbacova M, Stiburkova B, et al. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int 2005;68(4):1472-82.
    • (2005) , vol.68 , Issue.4 , pp. 1472-1482
    • Hodanova, K.1    Majewski, J.2    Kublova, M.3    Vyletal, P.4    Kalbacova, M.5    Stiburkova, B.6
  • 18
    • 84883048248 scopus 로고    scopus 로고
    • Combination of modern and traditional techniques identify MCKD1 casual frameshift variants within the MUC1 VNTR
    • J Am Soc Nephrol,abstract.
    • Kirby A, Gnirke A, Jaffe D, Baresova V, Pochet N, Blumenstiel B, et al. Combination of modern and traditional techniques identify MCKD1 casual frameshift variants within the MUC1 VNTR. J Am Soc Nephrol 2012 [abstract].
    • (2012)
    • Kirby, A.1    Gnirke, A.2    Jaffe, D.3    Baresova, V.4    Pochet, N.5    Blumenstiel, B.6
  • 19
    • 80054004978 scopus 로고    scopus 로고
    • Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations
    • Clin J Am Soc Nephrol
    • Bollee G, Dahan K, Flamant M, Moriniere V, Pawtowski A, Heidet L, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol 2011;6(10):2429-38.
    • (2011) , vol.6 , Issue.10 , pp. 2429-2438
    • Bollee, G.1    Dahan, K.2    Flamant, M.3    Moriniere, V.4    Pawtowski, A.5    Heidet, L.6
  • 20
    • 0025897169 scopus 로고
    • Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease
    • Clin Nephrol
    • Moro F, Ogg CS, Simmonds HA, Cameron JS, Chantler C, McBride MB, et al. Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. Clin Nephrol 1991;35(6):263-9.
    • (1991) , vol.35 , Issue.6 , pp. 263-269
    • Moro, F.1    Ogg, C.S.2    Simmonds, H.A.3    Cameron, J.S.4    Chantler, C.5    McBride, M.B.6
  • 21
    • 0242720706 scopus 로고    scopus 로고
    • Familial juvenile hyperuricaemic nephropathy
    • QJM
    • Bleyer AJ, Hart TC. Familial juvenile hyperuricaemic nephropathy. QJM 2003;96(11):867-8.
    • (2003) , vol.96 , Issue.11 , pp. 867-868
    • Bleyer, A.J.1    Hart, T.C.2
  • 22
    • 58249131395 scopus 로고    scopus 로고
    • Improving the recognition of hereditary interstitial kidney disease
    • J Am Soc Nephrol
    • Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol 2009;20(1):11-3.
    • (2009) , vol.20 , Issue.1 , pp. 11-13
    • Bleyer, A.J.1
  • 23
    • 83155182905 scopus 로고    scopus 로고
    • Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure
    • Clin J Am Soc Nephrol
    • Smith GD, Robinson C, Stewart AP, Edwards EL, Karet HI, Norden AG, et al. Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. Clin J Am Soc Nephrol 2011;6(12):2766-74.
    • (2011) , vol.6 , Issue.12 , pp. 2766-2774
    • Smith, G.D.1    Robinson, C.2    Stewart, A.P.3    Edwards, E.L.4    Karet, H.I.5    Norden, A.G.6
  • 24
    • 84881225707 scopus 로고    scopus 로고
    • Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey
    • Nephron Extra
    • Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P. Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. Nephron Extra 2012;2(1):147-58.
    • (2012) , vol.2 , Issue.1 , pp. 147-158
    • Lhotta, K.1    Piret, S.E.2    Kramar, R.3    Thakker, R.V.4    Sunder-Plassmann, G.5    Kotanko, P.6
  • 25
    • 77956136546 scopus 로고    scopus 로고
    • Hereditary interstitial kidney disease
    • Semin Nephrol
    • Bleyer AJ, Hart PS, Kmoch S. Hereditary interstitial kidney disease. Semin Nephrol 2010;30(4):366-73.
    • (2010) , vol.30 , Issue.4 , pp. 366-373
    • Bleyer, A.J.1    Hart, P.S.2    Kmoch, S.3
  • 26
    • 18544388555 scopus 로고    scopus 로고
    • Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families
    • Kidney Int
    • Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002;62(4):1385-94.
    • (2002) , vol.62 , Issue.4 , pp. 1385-1394
    • Stavrou, C.1    Koptides, M.2    Tombazos, C.3    Psara, E.4    Patsias, C.5    Zouvani, I.6
  • 27
    • 33744475145 scopus 로고    scopus 로고
    • Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
    • Hum Genet
    • Wolf MT, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006;119(6):649-58.
    • (2006) , vol.119 , Issue.6 , pp. 649-658
    • Wolf, M.T.1    Mucha, B.E.2    Hennies, H.C.3    Attanasio, M.4    Panther, F.5    Zalewski, I.6
  • 28
    • 10744226387 scopus 로고    scopus 로고
    • A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin
    • J Am Soc Nephrol
    • Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 2003;14(11):2883-93.
    • (2003) , vol.14 , Issue.11 , pp. 2883-2893
    • Dahan, K.1    Devuyst, O.2    Smaers, M.3    Vertommen, D.4    Loute, G.5    Poux, J.M.6
  • 29
    • 84881225707 scopus 로고    scopus 로고
    • Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey
    • Nephron Extra
    • Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P. Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey. Nephron Extra 2012;2(1):147- 58.
    • (2012) , vol.2 , Issue.1
    • Lhotta, K.1    Piret, S.E.2    Kramar, R.3    Thakker, R.V.4    Sunder-Plassmann, G.5    Kotanko, P.6
  • 30
    • 68049084873 scopus 로고    scopus 로고
    • Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum
    • Hum Mol Genet
    • Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, et al. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet 2009;18(16):2963-74.
    • (2009) , vol.18 , Issue.16 , pp. 2963-2974
    • Williams, S.E.1    Reed, A.A.2    Galvanovskis, J.3    Antignac, C.4    Goodship, T.5    Karet, F.E.6
  • 31
    • 80052844338 scopus 로고    scopus 로고
    • Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood
    • Kidney Int
    • Faguer S, Decramer S, Chassaing N, Bellanne-Chantelot C, Calvas P, Beaufils S, et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011;80(7):768-76.
    • (2011) , vol.80 , Issue.7 , pp. 768-776
    • Faguer, S.1    Decramer, S.2    Chassaing, N.3    Bellanne-Chantelot, C.4    Calvas, P.5    Beaufils, S.6
  • 32
    • 59849127448 scopus 로고    scopus 로고
    • Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT)
    • Pediatr Nephrol
    • Wolf MT, Hoskins BE, Beck BB, Hoppe B, Tasic V, Otto EA, et al. Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol 2009;24(1):55-60.
    • (2009) , vol.24 , Issue.1 , pp. 55-60
    • Wolf, M.T.1    Hoskins, B.E.2    Beck, B.B.3    Hoppe, B.4    Tasic, V.5    Otto, E.A.6
  • 33
    • 0036732947 scopus 로고    scopus 로고
    • Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease
    • QJM
    • Fairbanks LD, Cameron JS, Venkat-Raman G, Rigden SP, Rees L, Van"T HW, et al. Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM 2002;95(9):597-607.
    • (2002) , vol.95 , Issue.9 , pp. 597-607
    • Fairbanks, L.D.1    Cameron, J.S.2    Venkat-Raman, G.3    Rigden, S.P.4    Rees, L.5    Van"T, H.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.