메뉴 건너뛰기




Volumn 46, Issue 2, 1999, Pages 120-125

Dent's disease, or nephropathy related to CLCN5 mutations: A new entity;Maladie de dent, ou nephropathie liee aux mutations du gene CLCN5: Une nouvelle entite

Author keywords

Calcium nephrolithiasis; Dent's disease; Fanconi syndrome; Nephrocalcinosis; Renal failure; Rickets; X linked hypercalciuria

Indexed keywords

CHLORIDE CHANNEL;

EID: 0032941464     PISSN: 00662097     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (23)
  • 2
    • 0029015415 scopus 로고
    • Characterization of carrier females and affected males with X-linked recessive nephrolithiasis
    • REINHART S.C., NORDEN A.G.W., LAPSLEY M.,THAKKER R.V., PANG J., MOSES A.M. et al. - Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol, 1995, 5, 1451-1461.
    • (1995) J Am Soc Nephrol , vol.5 , pp. 1451-1461
    • Reinhart, S.C.1    Norden, A.G.W.2    Lapsley, M.3    Thakker, R.V.4    Pang, J.5    Moses, A.M.6
  • 3
    • 0028038212 scopus 로고
    • Dent's disease: A familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure, and a marked male predominance
    • WRONG O., NORDEN A.G.W., FEEST T.G. - Dent's disease: a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure, and a marked male predominance. Q J Med, 1994, 87, 473-493.
    • (1994) Q J Med , vol.87 , pp. 473-493
    • Wrong, O.1    Norden, A.G.W.2    Feest, T.G.3
  • 4
    • 0000227413 scopus 로고
    • Hypercalcuric rickets associated with renal tubular damage
    • DENT C.E., FRIEDMAN M. - Hypercalcuric rickets associated with renal tubular damage. Arch Dis Child, 1964, 39, 240-249.
    • (1964) Arch Dis Child , vol.39 , pp. 240-249
    • Dent, C.E.1    Friedman, M.2
  • 5
    • 0021808446 scopus 로고
    • Asymptomatic low molecular weight proteinuria: A report on 5 cases
    • SUZUKI Y., OKADA T., HIGUCHI A., MASE D.B., KABAYASHI O. - Asymptomatic low molecular weight proteinuria: A report on 5 cases. Clin Nephrol, 1985, 23, 249-254.
    • (1985) Clin Nephrol , vol.23 , pp. 249-254
    • Suzuki, Y.1    Okada, T.2    Higuchi, A.3    Mase, D.B.4    Kabayashi, O.5
  • 6
    • 0025101776 scopus 로고
    • The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: A survey of 53 patients
    • MURAKAMI T., KAWAKAMI H. - The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: a survey of 53 patients. Clin Nephrol, 1990, 33, 12-19.
    • (1990) Clin Nephrol , vol.33 , pp. 12-19
    • Murakami, T.1    Kawakami, H.2
  • 7
    • 0028957547 scopus 로고
    • Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: Is the discase identical to Dent's disease in United Kingdom?
    • IGARASHI T., HAYAKAWA H., SHIRAGA H., KAWATO H., YAN K., KAWAGUCHI H. et al. - Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the discase identical to Dent's disease in United Kingdom? Nephron, 1995, 69, 242-247.
    • (1995) Nephron , vol.69 , pp. 242-247
    • Igarashi, T.1    Hayakawa, H.2    Shiraga, H.3    Kawato, H.4    Yan, K.5    Kawaguchi, H.6
  • 8
    • 0042104330 scopus 로고
    • New X-linked hypophosphataemic rickets with hypercalciuria leading to progressive renal failure
    • ENIA G., ZOCCALI C., BOLINO A., ROMEO U. - New X-linked hypophosphataemic rickets with hypercalciuria leading to progressive renal failure. (abstract) Nephrol Dial Transplant, 1992, 7, 757-758.
    • (1992) Nephrol Dial Transplant , vol.7 , pp. 757-758
    • Enia, G.1    Zoccali, C.2    Bolino, A.3    Romeo, U.4
  • 9
    • 0027829385 scopus 로고
    • A new form of X-linked hypophosphatemic rickets with hypercalciuria (HPDR II)maps in the Xp11 region
    • BOLINO A., DEVOTO M., ENIA G., ZOCCALI C.J.W., ROMEO G. - A new form of X-linked hypophosphatemic rickets with hypercalciuria (HPDR II)maps in the Xp11 region. Eur J Hum Genet, 1993, 1, 269-279.
    • (1993) Eur J Hum Genet , vol.1 , pp. 269-279
    • Bolino, A.1    Devoto, M.2    Enia, G.3    Zoccali, C.J.W.4    Romeo, G.5
  • 11
    • 0027177179 scopus 로고
    • Mapping the gene causing X-linked recessive nephrolithiasis to Xp1 1.22 by linkage studies
    • SCHEINMAN S.J., POOK M.A., WOODING C., PANG J.T., FRYMOYER P.A., THAKKER R.V. - Mapping the gene causing X-linked recessive nephrolithiasis to Xp1 1.22 by linkage studies. J Clin Invest, 1993, 91, 2351-2357.
    • (1993) J Clin Invest , vol.91 , pp. 2351-2357
    • Scheinman, S.J.1    Pook, M.A.2    Wooding, C.3    Pang, J.T.4    Frymoyer, P.A.5    Thakker, R.V.6
  • 12
    • 0027716372 scopus 로고
    • Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones is associated with a microdeletion involving DXS255 and maps to Xp1 1.22
    • POOK M.A., WRONG O., WOODING C., NORDEN A.G.W., FEEST T.G., THAKKER R.V. - Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones is associated with a microdeletion involving DXS255 and maps to Xp1 1.22. Hum Molec Genet, 1993, 2, 2129-2134.
    • (1993) Hum Molec Genet , vol.2 , pp. 2129-2134
    • Pook, M.A.1    Wrong, O.2    Wooding, C.3    Norden, A.G.W.4    Feest, T.G.5    Thakker, R.V.6
  • 13
    • 0029609597 scopus 로고
    • Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease
    • STEINMEYER K., SCHWAPPACH B., BENS M., VANDEWALLE A., JENTSCH T.J. - Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease. J Biol Chem, 1995, 270, 31172-31177
    • (1995) J Biol Chem , vol.270 , pp. 31172-31177
    • Steinmeyer, K.1    Schwappach, B.2    Bens, M.3    Vandewalle, A.4    Jentsch, T.J.5
  • 14
    • 0028788756 scopus 로고
    • Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)
    • FISHER S.E., VAN BAKEL I., LLOYD S.E., PEARCE S.H.S., THAKKER R.V., CRAIG I.W. - Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics, 1995, 29, 598-606.
    • (1995) Genomics , vol.29 , pp. 598-606
    • Fisher, S.E.1    Van Bakel, I.2    Lloyd, S.E.3    Pearce, S.H.S.4    Thakker, R.V.5    Craig, I.W.6
  • 15
    • 0343812098 scopus 로고    scopus 로고
    • Chloride channels: An emerging molecular picture
    • JENTSCH T.J., GUNTHER W. - Chloride channels: an emerging molecular picture. Bioessays, 1997, 19, 117-126.
    • (1997) Bioessays , vol.19 , pp. 117-126
    • Jentsch, T.J.1    Gunther, W.2
  • 17
    • 0030907872 scopus 로고    scopus 로고
    • Idiopathic low molecular weight proteinuria associated with hypercaleiuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)
    • LLOYD S.E., PEARCE S.H., GUNTHER W.S. KAWAGUCHI H., IGARASHI T.W., JENTSCH T.J. et al. - Idiopathic low molecular weight proteinuria associated with hypercaleiuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest, 1997, 99, 967-974.
    • (1997) J Clin Invest , vol.99 , pp. 967-974
    • Lloyd, S.E.1    Pearce, S.H.2    Gunther, W.S.3    Kawaguchi, H.4    Igarashi, T.W.5    Jentsch, T.J.6
  • 18
    • 0030801334 scopus 로고    scopus 로고
    • Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria
    • NAKAZATO H., HATTORI S., FURUSE A., KAWANO T., KARASHIMA S., TSURUTA M. et al. - Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria. Kidney Int. 1997, 52, 895-900.
    • (1997) Kidney Int. , vol.52 , pp. 895-900
    • Nakazato, H.1    Hattori, S.2    Furuse, A.3    Kawano, T.4    Karashima, S.5    Tsuruta, M.6
  • 19
    • 0031909863 scopus 로고    scopus 로고
    • CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets
    • KELLEHER C., BUCKALEW V., FREDERICKSON E., RHODES D., CONNER D., SEIDMAN G., SEIDMAN C. -CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets. Kidney Int, 1998, 53, 31-37.
    • (1998) Kidney Int , vol.53 , pp. 31-37
    • Kelleher, C.1    Buckalew, V.2    Frederickson, E.3    Rhodes, D.4    Conner, D.5    Seidman, G.6    Seidman, C.7
  • 20
    • 0030874882 scopus 로고    scopus 로고
    • Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis
    • AKUTA N., LLOYD S.E., IGARASHI T., SHIRAGA H., MATSUYAMA T., YOKORO S. et al. - Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int, 1997, 52, 911-916.
    • (1997) Kidney Int , vol.52 , pp. 911-916
    • Akuta, N.1    Lloyd, S.E.2    Igarashi, T.3    Shiraga, H.4    Matsuyama, T.5    Yokoro, S.6
  • 21
    • 0031888274 scopus 로고    scopus 로고
    • X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations
    • SCHEINMAN S. - X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int, 1998, 53, 3-17.
    • (1998) Kidney Int , vol.53 , pp. 3-17
    • Scheinman, S.1
  • 22
    • 0028033777 scopus 로고
    • Isolation and partial characterization of a human chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an hereditary nephrolithiasis)
    • FISHER S.E., BLACK G.C.M., LLOYD S.E., WRONG O.M., THAKKER R.V., CRAIG I.W. - Isolation and partial characterization of a human chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an hereditary nephrolithiasis). Hum Molec Genet, 1994, 3, 2053-2059.
    • (1994) Hum Molec Genet , vol.3 , pp. 2053-2059
    • Fisher, S.E.1    Black, G.C.M.2    Lloyd, S.E.3    Wrong, O.M.4    Thakker, R.V.5    Craig, I.W.6
  • 23
    • 0032493276 scopus 로고    scopus 로고
    • CLC-5, the chloride channel mutated in Dent's disease, colocalises with the proton pump in endocytoticlally active kidney cells
    • GÜNTHER W., LÜCHOW A., CLUZEAUD F., VANDEVALLE A., JENTSCH T. - CLC-5, the chloride channel mutated in Dent's disease, colocalises with the proton pump in endocytoticlally active kidney cells. Proc Natl Acad Sci, 1998, 95, 8075-8080.
    • (1998) Proc Natl Acad Sci , vol.95 , pp. 8075-8080
    • Günther, W.1    Lüchow, A.2    Cluzeaud, F.3    Vandevalle, A.4    Jentsch, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.