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Volumn 64, Issue 3, 2003, Pages 808-816

Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis

Author keywords

Hypokalemic metabolic alkalosis; NCCT; NKCC2; Renal tubular electrolyte transporter

Indexed keywords

CHLORIDE CHANNEL; COTRANSPORTER; GENE PRODUCT; SODIUM POTASSIUM CHLORIDE COTRANSPORTER;

EID: 0041429622     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2003.00163.x     Document Type: Article
Times cited : (44)

References (32)
  • 1
    • 50849151835 scopus 로고
    • Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome
    • BARTTER FC, PRONOVE P, GILL JR: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33:811-828, 1962
    • (1962) Am J Med , vol.33 , pp. 811-828
    • Bartter, F.C.1    Pronove, P.2    Gill, J.R.3
  • 2
    • 0013976561 scopus 로고
    • A new familial disorder characterized by hypokalemia and hypomagnesemia
    • GITELMAN H, GRAHAM J, WELT L: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Am Assoc Physicians 79:92-96, 1966
    • (1966) Trans Am Assoc Physicians , vol.79 , pp. 92-96
    • Gitelman, H.1    Graham, J.2    Welt, L.3
  • 3
    • 0026512508 scopus 로고
    • Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter's and Gitelman's syndromes
    • BETTINELLI A, BIANCHETTI MG, GIRARDIN E, et al: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter's and Gitelman's syndromes. J Pediatr 120:38-43, 1992
    • (1992) J Pediatr , vol.120 , pp. 38-43
    • Bettinelli, A.1    Bianchetti, M.G.2    Girardin, E.3
  • 4
    • 0033667558 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter's-Gitelman's phenotype
    • JECK N, KONRAD M, PETERS M, et al: Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter's-Gitelman's phenotype. Pediatr Res 48:754-758, 2000
    • (2000) Pediatr Res , vol.48 , pp. 754-758
    • Jeck, N.1    Konrad, M.2    Peters, M.3
  • 5
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
    • SIMON DB, KARET FE, HAMDAN JM, et al: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183-188, 1996
    • (1996) Nat Genet , vol.13 , pp. 183-188
    • Simon, D.B.1    Karet, F.E.2    Hamdan, J.M.3
  • 6
    • 0029794875 scopus 로고    scopus 로고
    • Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
    • SIMON DB, KARET FE, RODRIGUEZ-SORIANO J, et al: Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14:152-156, 1996
    • (1996) Nat Genet , vol.14 , pp. 152-156
    • Simon, D.B.1    Karet, F.E.2    Rodriguez-Soriano, J.3
  • 7
    • 16944366243 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
    • SIMON DB, BINDRA RS, MANSFIELD TA, et al: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178, 1997
    • (1997) Nat Genet , vol.17 , pp. 171-178
    • Simon, D.B.1    Bindra, R.S.2    Mansfield, T.A.3
  • 8
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
    • SIMON DB, NELSON-WILLIAMS C, BIA MJ, et al: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24-30, 1996
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3
  • 9
    • 0037082531 scopus 로고    scopus 로고
    • Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies
    • PETERS M, JECK N, REINALTER S, et al: Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112:183-190, 2002
    • (2002) Am J Med , vol.112 , pp. 183-190
    • Peters, M.1    Jeck, N.2    Reinalter, S.3
  • 10
    • 17344369929 scopus 로고    scopus 로고
    • Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter's syndrome
    • VARGAS-POUSSOU R, FELDMANN D, VOLLMER M, et al: Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter's syndrome. Am J Hum Genet 62:1332-1340, 1998
    • (1998) Am J Hum Genet , vol.62 , pp. 1332-1340
    • Vargas-Poussou, R.1    Feldmann, D.2    Vollmer, M.3
  • 11
    • 0028061201 scopus 로고
    • Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel
    • SHUCK ME, BOCK JH, BENJAMIN CW, et al: Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J Biol Chem 30:24261-24270, 1994
    • (1994) J Biol Chem , vol.30 , pp. 24261-24270
    • Shuck, M.E.1    Bock, J.H.2    Benjamin, C.W.3
  • 12
    • 8044222737 scopus 로고    scopus 로고
    • Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter's syndrome: Evidence for genetic heterogeneity
    • INTERNATIONAL COLLABORATIVE STUDY GROUP FOR BARTTER'S-LIKE SYNDROMES: Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter's syndrome: Evidence for genetic heterogeneity. Hum Mol Genet 6:17-26, 1997
    • (1997) Hum Mol Genet , vol.6 , pp. 17-26
  • 13
    • 0029972220 scopus 로고    scopus 로고
    • Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman's syndrome
    • MASTROIANNI N, BETTINELLI A, BIANCHETTI M, et al: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman's syndrome. Am J Hum Genet 59:1019-1026, 1996
    • (1996) Am J Hum Genet , vol.59 , pp. 1019-1026
    • Mastroianni, N.1    Bettinelli, A.2    Bianchetti, M.3
  • 14
    • 0027943674 scopus 로고
    • Molecular cloning and chromosome localization of a putative basolateral Na(+)-K(+)-2Cl-cotransporter from mouse inner medullary collecting duct (mIMCD-3) cells
    • DELPIRE E, RAUCHMAN MI, BEIER DR, et al: Molecular cloning and chromosome localization of a putative basolateral Na(+)-K(+)-2Cl-cotransporter from mouse inner medullary collecting duct (mIMCD-3) cells. J Biol Chem 269:25677-25683, 1994
    • (1994) J Biol Chem , vol.269 , pp. 25677-25683
    • Delpire, E.1    Rauchman, M.I.2    Beier, D.R.3
  • 15
    • 0029853754 scopus 로고    scopus 로고
    • The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes
    • HEBERT SC, GULLANS SR: The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes. Am J Physiol 271:F957-F959, 1996
    • (1996) Am J Physiol , vol.271
    • Hebert, S.C.1    Gullans, S.R.2
  • 16
    • 0032499776 scopus 로고    scopus 로고
    • The role of transmembrane domain 2 in cation transport by the Na-K-Cl cotransporter
    • ISENRING P, JACOBY SC, FORBUSH B 3RD: The role of transmembrane domain 2 in cation transport by the Na-K-Cl cotransporter. Proc Natl Acad Sci USA 95:7179-7184, 1998
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 7179-7184
    • Isenring, P.1    Jacoby, S.C.2    Forbush B. III3
  • 17
    • 0033914432 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter's syndrome
    • KONRAD M, VOLLMER M, LEMMINK HH, et al: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter's syndrome. J Am Soc Nephrol 11:1449-1459, 2000
    • (2000) J Am Soc Nephrol , vol.11 , pp. 1449-1459
    • Konrad, M.1    Vollmer, M.2    Lemmink, H.H.3
  • 18
    • 0032698959 scopus 로고    scopus 로고
    • Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome
    • KUNCHAPARTY S, PALCSO M, BERKMAN J, et al: Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome. Am J Physiol 277:F643-F649, 1999
    • (1999) Am J Physiol , vol.277
    • Kunchaparty, S.1    Palcso, M.2    Berkman, J.3
  • 19
    • 0036188716 scopus 로고    scopus 로고
    • Two novel mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman's syndrome
    • TAJIMA T, KOBAYASHI Y, ABE S, et al: Two novel mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman's syndrome. Endocr J 49:91-96, 2002
    • (2002) Endocr J , vol.49 , pp. 91-96
    • Tajima, T.1    Kobayashi, Y.2    Abe, S.3
  • 20
    • 0033982893 scopus 로고    scopus 로고
    • Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome
    • MONKAWA T, KURIHARA I, KOBAYASHI K, et al: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol 11:65-70, 2000
    • (2000) J Am Soc Nephrol , vol.11 , pp. 65-70
    • Monkawa, T.1    Kurihara, I.2    Kobayashi, K.3
  • 21
    • 0023765041 scopus 로고
    • Bartter's syndrome: A review of 28 patients followed for 10 years
    • RUDIN A: Bartter's syndrome: A review of 28 patients followed for 10 years. Acta Med Scand 224:165-171, 1988
    • (1988) Acta Med Scand , vol.224 , pp. 165-171
    • Rudin, A.1
  • 22
    • 0029148777 scopus 로고
    • Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome
    • PETERS N, BETTINELLI A, SPICHER I, et al: Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Nephrol Dial Transplant 10:1313-1319, 1995
    • (1995) Nephrol Dial Transplant , vol.10 , pp. 1313-1319
    • Peters, N.1    Bettinelli, A.2    Spicher, I.3
  • 23
    • 0025509212 scopus 로고
    • Cellular actions of thiazide diuretics in the distal tubule
    • STANTON BA: Cellular actions of thiazide diuretics in the distal tubule. J Am Soc Nephrol 1:832-836, 1990
    • (1990) J Am Soc Nephrol , vol.1 , pp. 832-836
    • Stanton, B.A.1
  • 24
    • 12444335383 scopus 로고    scopus 로고
    • Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl-cotransporter of the distal convoluted tubule
    • SCHULTHEIS PJ, LORENZ JN, MENETON P, et al: Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl-cotransporter of the distal convoluted tubule. J Biol Chem 30:150-155, 1998
    • (1998) J Biol Chem , vol.30 , pp. 150-155
    • Schultheis, P.J.1    Lorenz, J.N.2    Meneton, P.3
  • 25
    • 0037213896 scopus 로고    scopus 로고
    • A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman's and Bartter's syndromes
    • ZELIKOVIC I, SZARGEL R, HAWASH A, et al: A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman's and Bartter's syndromes. Kidney Int 63:24-32, 2003
    • (2003) Kidney Int , vol.63 , pp. 24-32
    • Zelikovic, I.1    Szargel, R.2    Hawash, A.3
  • 26
    • 18544369466 scopus 로고    scopus 로고
    • Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM 6, a new member of the TRPM gene family
    • SCHLINGMANN KP, WEBER S, PETERS M, et al: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 31:166-170, 2002
    • (2002) Nat Genet , vol.31 , pp. 166-170
    • Schlingmann, K.P.1    Weber, S.2    Peters, M.3
  • 27
    • 0036592004 scopus 로고    scopus 로고
    • Mutation of TRPM 6 causes familial hypomagnesemia with secondary hypocalcemia
    • WILDER RY, LANDAU D, MEYER P, et al: Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 31:171-174, 2002
    • (2002) Nat Genet , vol.31 , pp. 171-174
    • Wilder, R.Y.1    Landau, D.2    Meyer, P.3
  • 28
    • 0035139184 scopus 로고    scopus 로고
    • Magnesium transport in the renal distal convoluted tubule
    • DAI LJ, RITCHIE G, KERSTAN D, et al: Magnesium transport in the renal distal convoluted tubule. Physiol Rev 81:51-84, 2001
    • (2001) Physiol Rev , vol.81 , pp. 51-84
    • Dai, L.J.1    Ritchie, G.2    Kerstan, D.3
  • 30
    • 0029951194 scopus 로고    scopus 로고
    • Extracellular calcium-sensing receptor: Implications for calcium and magnesium handling in the kidney
    • HEBERT SC: Extracellular calcium-sensing receptor: Implications for calcium and magnesium handling in the kidney. Kidney Int 50:2129-2139, 1996
    • (1996) Kidney Int , vol.50 , pp. 2129-2139
    • Hebert, S.C.1
  • 31
    • 0034976865 scopus 로고    scopus 로고
    • Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome
    • BONFANTE L, DAVIS PA, SPINELLO M, et al: Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome. Am J Kidney Dis 38:165-168, 2001
    • (2001) Am J Kidney Dis , vol.38 , pp. 165-168
    • Bonfante, L.1    Davis, P.A.2    Spinello, M.3
  • 32
    • 0031768052 scopus 로고    scopus 로고
    • Acute renal failure due to hypokalemic rhabdomyolysis in Gitelman's syndrome
    • NISHIHARA G, HIGASHI H, MATSUO S, et al: Acute renal failure due to hypokalemic rhabdomyolysis in Gitelman's syndrome. Clin Nephrol 50:330-332, 1998
    • (1998) Clin Nephrol , vol.50 , pp. 330-332
    • Nishihara, G.1    Higashi, H.2    Matsuo, S.3


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