메뉴 건너뛰기




Volumn 37, Issue 6, 2005, Pages 1151-1161

Renal tubular acidosis: Developments in our understanding of the molecular basis

Author keywords

Anion exchanger; Intercalated cell; Kidney; Nephrocalcinosis; Nephron; Proton pump; Renal tubular acidosis

Indexed keywords

ADENOSINE TRIPHOSPHATASE; BICARBONATE SODIUM COTRANSPORTER; PROTON PUMP;

EID: 15044363953     PISSN: 13572725     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biocel.2005.01.002     Document Type: Short Survey
Times cited : (90)

References (50)
  • 1
    • 0026070573 scopus 로고
    • The band 3-related anion exchanger (AE) gene family
    • S.L. Alper The band 3-related anion exchanger (AE) gene family Annual Review of Physiology 53 1991 549 564
    • (1991) Annual Review of Physiology , vol.53 , pp. 549-564
    • Alper, S.L.1
  • 2
    • 0036197399 scopus 로고    scopus 로고
    • Genetic diseases of acid-base transporters
    • S.L. Alper Genetic diseases of acid-base transporters Annual Review of Physiology 64 2002 899 923
    • (2002) Annual Review of Physiology , vol.64 , pp. 899-923
    • Alper, S.L.1
  • 3
    • 0037171857 scopus 로고    scopus 로고
    • Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4
    • T. Boettger, C.A. Hubner, H. Maier, M.B. Rust, F.X. Beck, and T.J. Jentsch Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4 Nature 416 2002 874 878
    • (2002) Nature , vol.416 , pp. 874-878
    • Boettger, T.1    Hubner, C.A.2    Maier, H.3    Rust, M.B.4    Beck, F.X.5    Jentsch, T.J.6
  • 5
    • 0030923557 scopus 로고    scopus 로고
    • Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
    • L.J. Bruce, D.L. Cope, G.K. Jones, A.E. Schofield, M. Burley, and S. Povey Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene Journal of Clinical Investigation 100 1997 1693 1707
    • (1997) Journal of Clinical Investigation , vol.100 , pp. 1693-1707
    • Bruce, L.J.1    Cope, D.L.2    Jones, G.K.3    Schofield, A.E.4    Burley, M.5    Povey, S.6
  • 6
    • 0034663483 scopus 로고    scopus 로고
    • Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: Loss of up to 95% band 3 transport in red cells
    • L.J. Bruce, O. Wrong, A.M. Toye, M.T. Young, G. Ogle, and Z. Ismail Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: Loss of up to 95% band 3 transport in red cells Biochemical Journal 350 2000 41 51
    • (2000) Biochemical Journal , vol.350 , pp. 41-51
    • Bruce, L.J.1    Wrong, O.2    Toye, A.M.3    Young, M.T.4    Ogle, G.5    Ismail, Z.6
  • 7
    • 0029164278 scopus 로고
    • Absence of vacuolar H(+)-ATPase pump in the collecting duct of a patient with hypokalemic distal renal tubular acidosis and Sjogren's syndrome
    • P.E. DeFranco, L. Haragsim, P.G. Schmitz, and B. Bastani Absence of vacuolar H(+)-ATPase pump in the collecting duct of a patient with hypokalemic distal renal tubular acidosis and Sjogren's syndrome Journal of the American Society of Nephrology 6 1995 295 301
    • (1995) Journal of the American Society of Nephrology , vol.6 , pp. 295-301
    • Defranco, P.E.1    Haragsim, L.2    Schmitz, P.G.3    Bastani, B.4
  • 8
    • 0037317252 scopus 로고    scopus 로고
    • Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis
    • M.A. Devonald, A.N. Smith, J.P. Poon, G. Ihrke, and F.E. Karet Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis Nature Genetics 33 2003 125 127
    • (2003) Nature Genetics , vol.33 , pp. 125-127
    • Devonald, M.A.1    Smith, A.N.2    Poon, J.P.3    Ihrke, G.4    Karet, F.E.5
  • 9
    • 10844221389 scopus 로고    scopus 로고
    • A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects
    • D. Dinour, M.H. Chang, J.I. Satoh, B.L. Smith, N. Angle, and A. Knecht A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects Journal of Biological Chemistry 279 2004 52238 52246
    • (2004) Journal of Biological Chemistry , vol.279 , pp. 52238-52246
    • Dinour, D.1    Chang, M.H.2    Satoh, J.I.3    Smith, B.L.4    Angle, N.5    Knecht, A.6
  • 10
    • 0027995447 scopus 로고
    • A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent
    • D.M. Fathallah, M. Bejaoui, W.S. Sly, R. Lakhoua, and K. Dellagi A unique mutation underlying carbonic anhydrase II deficiency syndrome in patients of Arab descent Human Genetics 94 1994 581 582
    • (1994) Human Genetics , vol.94 , pp. 581-582
    • Fathallah, D.M.1    Bejaoui, M.2    Sly, W.S.3    Lakhoua, R.4    Dellagi, K.5
  • 11
    • 0037228015 scopus 로고    scopus 로고
    • ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child
    • H. Hahn, H.G. Kang, I.S. Ha, H.I. Cheong, and Y. Choi ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child American Journal of Kidney Diseases 41 2003 238 243
    • (2003) American Journal of Kidney Diseases , vol.41 , pp. 238-243
    • Hahn, H.1    Kang, H.G.2    Ha, I.S.3    Cheong, H.I.4    Choi, Y.5
  • 12
    • 0028217372 scopus 로고
    • Carbonic anhydrase II deficiency: Single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
    • P.Y. Hu, A.R. Ernst, W.S. Sly, P.J. Venta, L.A. Skaggs, and R.E. Tashian Carbonic anhydrase II deficiency: Single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients. American Journal of Human Genetics 54 1994 602 608
    • (1994) American Journal of Human Genetics , vol.54 , pp. 602-608
    • Hu, P.Y.1    Ernst, A.R.2    Sly, W.S.3    Venta, P.J.4    Skaggs, L.A.5    Tashian, R.E.6
  • 13
    • 0032720230 scopus 로고    scopus 로고
    • Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
    • T. Igarashi, J. Inatomi, T. Sekine, S.H. Cha, Y. Kanai, and M. Kunimi Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Nature Genetics 23 1999 264 266
    • (1999) Nature Genetics , vol.23 , pp. 264-266
    • Igarashi, T.1    Inatomi, J.2    Sekine, T.3    Cha, S.H.4    Kanai, Y.5    Kunimi, M.6
  • 17
    • 0033358521 scopus 로고    scopus 로고
    • Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34
    • F.E. Karet, K.E. Finberg, A. Nayir, A. Bakkaloglu, S. Ozen, and S.A. Hulton Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34 American Journal of Human Genetics 65 1999 1656 1665
    • (1999) American Journal of Human Genetics , vol.65 , pp. 1656-1665
    • Karet, F.E.1    Finberg, K.E.2    Nayir, A.3    Bakkaloglu, A.4    Ozen, S.5    Hulton, S.A.6
  • 18
    • 0032943534 scopus 로고    scopus 로고
    • Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
    • F.E. Karet, K.E. Finberg, R.D. Nelson, A. Nayir, H. Mocan, and S.A. Sanjad Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness Nature Genetics 21 1999 84 90
    • (1999) Nature Genetics , vol.21 , pp. 84-90
    • Karet, F.E.1    Finberg, K.E.2    Nelson, R.D.3    Nayir, A.4    Mocan, H.5    Sanjad, S.A.6
  • 20
    • 0001623359 scopus 로고    scopus 로고
    • Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy
    • L.W. Lai, D.M. Chan, R.P. Erickson, S.J. Hsu, and Y.H. Lien Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy Journal of Clinical Investigation 101 1998 1320 1325
    • (1998) Journal of Clinical Investigation , vol.101 , pp. 1320-1325
    • Lai, L.W.1    Chan, D.M.2    Erickson, R.P.3    Hsu, S.J.4    Lien, Y.H.5
  • 21
    • 0033863335 scopus 로고    scopus 로고
    • Acid and mineral balances and bone in familial proximal renal tubular acidosis
    • J. Lemann Jr., N.D. Adams, D.R. Wilz, and L.G. Brenes Acid and mineral balances and bone in familial proximal renal tubular acidosis Kidney International 58 2000 1267 1277
    • (2000) Kidney International , vol.58 , pp. 1267-1277
    • Lemann Jr., J.1    Adams, N.D.2    Wilz, D.R.3    Brenes, L.G.4
  • 22
    • 0037115749 scopus 로고    scopus 로고
    • Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis
    • J.A. Quilty, E. Cordat, and R.A. Reithmeier Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis Biochemical Journal 368 2002 895 903
    • (2002) Biochemical Journal , vol.368 , pp. 895-903
    • Quilty, J.A.1    Cordat, E.2    Reithmeier, R.A.3
  • 23
    • 0036086387 scopus 로고    scopus 로고
    • Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1
    • J.A. Quilty, J. Li, and R.A. Reithmeier Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1 American Journal of Physiology Renal Physiology 282 2002 F810 F820
    • (2002) American Journal of Physiology Renal Physiology , vol.282
    • Quilty, J.A.1    Li, J.2    Reithmeier, R.A.3
  • 24
    • 0034663120 scopus 로고    scopus 로고
    • Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
    • M.L. Ribeiro, N. Alloisio, H. Almeida, C. Gomes, P. Texier, and C. Lemos Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3 Blood 96 2000 1602 1604
    • (2000) Blood , vol.96 , pp. 1602-1604
    • Ribeiro, M.L.1    Alloisio, N.2    Almeida, H.3    Gomes, C.4    Texier, P.5    Lemos, C.6
  • 28
    • 1842740905 scopus 로고    scopus 로고
    • A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells
    • N. Rungroj, M.A. Devonald, A.W. Cuthbert, F. Reimann, V. Akkarapatumwong, and P.T. Yenchitsomanus A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells Journal of Biological Chemistry 279 2004 13833 13838
    • (2004) Journal of Biological Chemistry , vol.279 , pp. 13833-13838
    • Rungroj, N.1    Devonald, M.A.2    Cuthbert, A.W.3    Reimann, F.4    Akkarapatumwong, V.5    Yenchitsomanus, P.T.6
  • 30
    • 15044355321 scopus 로고    scopus 로고
    • Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation
    • G.N. Shah, G. Bonapace, P.Y. Hu, P. Strisciuglio, and W.S. Sly Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation Human Mutations 24 2004 272
    • (2004) Human Mutations , vol.24 , pp. 272
    • Shah, G.N.1    Bonapace, G.2    Hu, P.Y.3    Strisciuglio, P.4    Sly, W.S.5
  • 32
    • 0001690310 scopus 로고
    • Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
    • W.S. Sly, D. Hewett-Emmett, M.P. Whyte, Y.S. Yu, and R.E. Tashian Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification Proceedings of the National Academy of Sciences of the United States of America 80 1983 2752 2756
    • (1983) Proceedings of the National Academy of Sciences of the United States of America , vol.80 , pp. 2752-2756
    • Sly, W.S.1    Hewett-Emmett, D.2    Whyte, M.P.3    Yu, Y.S.4    Tashian, R.E.5
  • 33
    • 0033812944 scopus 로고    scopus 로고
    • Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
    • A.N. Smith, J. Skaug, K.A. Choate, A. Nayir, A. Bakkaloglu, and S. Ozen Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing Nature Genetics 26 2000 71 75
    • (2000) Nature Genetics , vol.26 , pp. 71-75
    • Smith, A.N.1    Skaug, J.2    Choate, K.A.3    Nayir, A.4    Bakkaloglu, A.5    Ozen, S.6
  • 37
    • 18744379726 scopus 로고    scopus 로고
    • Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
    • E.H. Stover, K.J. Borthwick, C. Bavalia, N. Eady, D.M. Fritz, and N. Rungroj Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss Journal of Medical Genetics 39 2002 796 803
    • (2002) Journal of Medical Genetics , vol.39 , pp. 796-803
    • Stover, E.H.1    Borthwick, K.J.2    Bavalia, C.3    Eady, N.4    Fritz, D.M.5    Rungroj, N.6
  • 38
    • 0031466796 scopus 로고    scopus 로고
    • The structure and function of band 3 (AE1): Recent developments (review)
    • M.J. Tanner The structure and function of band 3 (AE1): Recent developments (review) Molecular Membrane Biology 14 1997 155 165
    • (1997) Molecular Membrane Biology , vol.14 , pp. 155-165
    • Tanner, M.J.1
  • 40
    • 2342419208 scopus 로고    scopus 로고
    • Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: Mis-targeting explains dominant renal tubular acidosis (dRTA)
    • A.M. Toye, G. Banting, and M.J. Tanner Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: Mis-targeting explains dominant renal tubular acidosis (dRTA) Journal of Cell Science 117 2004 1399 1410
    • (2004) Journal of Cell Science , vol.117 , pp. 1399-1410
    • Toye, A.M.1    Banting, G.2    Tanner, M.J.3
  • 41
    • 0036090376 scopus 로고    scopus 로고
    • Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells
    • A.M. Toye, L.J. Bruce, R.J. Unwin, O. Wrong, and M.J. Tanner Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells Blood 99 2002 342 347
    • (2002) Blood , vol.99 , pp. 342-347
    • Toye, A.M.1    Bruce, L.J.2    Unwin, R.J.3    Wrong, O.4    Tanner, M.J.5
  • 42
    • 15044344325 scopus 로고    scopus 로고
    • Urinary stones, nephrocalcinosis and renal tubular acidosis
    • D.A. Warrell T.M. Cox J.D. Firth Jr. E.J. Benz 4th ed. Oxford University Press Oxford
    • R.J. Unwin, G. Capasso, and W.G. Robertson Urinary stones, nephrocalcinosis and renal tubular acidosis D.A. Warrell T.M. Cox J.D. Firth Jr. E.J. Benz The Oxford textbook of medicine 4th ed. 2003 Oxford University Press Oxford 434 446
    • (2003) The Oxford Textbook of Medicine , pp. 434-446
    • Unwin, R.J.1    Capasso, G.2    Robertson, W.G.3
  • 46
    • 0025944564 scopus 로고
    • Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His-Tyr): Complete structure of the normal human CA II gene
    • P.J. Venta, R.J. Welty, T.M. Johnson, W.S. Sly, and R.E. Tashian Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His-Tyr): Complete structure of the normal human CA II gene American Journal of Human Geneics 49 1991 1082 1090
    • (1991) American Journal of Human Geneics , vol.49 , pp. 1082-1090
    • Venta, P.J.1    Welty, R.J.2    Johnson, T.M.3    Sly, W.S.4    Tashian, R.E.5
  • 48
    • 0034095573 scopus 로고    scopus 로고
    • Prevalence and characterization of renal tubular acidosis in patients with osteopenia and osteoporosis and in non-porotic controls
    • W. Weger, P. Kotanko, M. Weger, H. Deutschmann, and F. Skrabal Prevalence and characterization of renal tubular acidosis in patients with osteopenia and osteoporosis and in non-porotic controls Nephrology, Dialysis and Transplantation 15 2000 975 980
    • (2000) Nephrology, Dialysis and Transplantation , vol.15 , pp. 975-980
    • Weger, W.1    Kotanko, P.2    Weger, M.3    Deutschmann, H.4    Skrabal, F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.