메뉴 건너뛰기




Volumn 43, Issue 2, 2004, Pages 304-312

Intrafamilial Phenotype Variability in Patients with Gitelman Syndrome Having the Same Mutations in their Thiazide-Sensitive Sodium/Chloride Cotransporter

Author keywords

Hypokalemia; Magnesium; Sodium chloride cotransporter (NCC); Urine calcium

Indexed keywords

CALCIUM; COTRANSPORTER; MAGNESIUM; SODIUM CHLORIDE COTRANSPORTER; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG;

EID: 0742270766     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2003.10.018     Document Type: Article
Times cited : (102)

References (37)
  • 1
    • 79953001583 scopus 로고    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 Assoc Am Physicians 79:92-96, 1996
    • (1996) Trans Assoc Am Physicians , vol.79 , pp. 92-96
    • Gitelman, H.1    Graham, J.2    Welt, L.3
  • 2
    • 0028907029 scopus 로고
    • Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalciuria (Gitelman's syndrome)
    • Bettinelli A, Bianchetti MG, Borella P, et al: Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalciuria (Gitelman's syndrome). Kidney Int 47:547-551, 1995
    • (1995) Kidney Int , vol.47 , pp. 547-551
    • Bettinelli, A.1    Bianchetti, M.G.2    Borella, P.3
  • 3
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalemic 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 hypokalemic 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
  • 4
    • 0029972220 scopus 로고    scopus 로고
    • Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome
    • Mastroianni N, Bettinelli A, Bianchetti M, et al: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 9:1019-1026, 1996
    • (1996) Am J Hum Genet , vol.9 , pp. 1019-1026
    • Mastroianni, N.1    Bettinelli, A.2    Bianchetti, M.3
  • 5
    • 17144462641 scopus 로고    scopus 로고
    • Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain
    • Lemmink HH, Knoers NV, Karolyi L, et al: Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int 54:720-730, 1998
    • (1998) Kidney Int , vol.54 , pp. 720-730
    • Lemmink, H.H.1    Knoers, N.V.2    Karolyi, L.3
  • 6
    • 0036990761 scopus 로고    scopus 로고
    • Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles
    • Reissinger A, Ludwig M, Utsch B, et al: Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res 25:354-362, 2002
    • (2002) Kidney Blood Press Res , vol.25 , pp. 354-362
    • Reissinger, A.1    Ludwig, M.2    Utsch, B.3
  • 7
    • 0033914432 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
    • Konrad M, Vollmer M, Lemmink EH, et al: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. Am J Soc Nephrol 11:1449-1459, 2000
    • (2000) Am J Soc Nephrol , vol.11 , pp. 1449-1459
    • Konrad, M.1    Vollmer, M.2    Lemmink, E.H.3
  • 8
    • 0033667558 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype
    • Jeck N, Konrad M, Peters M, Weber S, Bonzel, Seyberth HM: Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 48:754-758, 2002
    • (2002) Pediatr Res , vol.48 , pp. 754-758
    • Jeck, N.1    Konrad, M.2    Peters, M.3    Weber, S.4    Bonzel5    Seyberth, H.M.6
  • 9
    • 0037213896 scopus 로고    scopus 로고
    • A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes
    • Zelikovic I, Szargel R, Hawash A, et al: A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 63:24-32, 2003
    • (2003) Kidney Int , vol.63 , pp. 24-32
    • Zelikovic, I.1    Szargel, R.2    Hawash, A.3
  • 10
    • 0031681211 scopus 로고    scopus 로고
    • Molecular pathogenesis of Bartter's and Gitelman's syndrome
    • Kurtz I: Molecular pathogenesis of Bartter's and Gitelman's syndrome. Kidney Int 54:1396-1410, 1998
    • (1998) Kidney Int , vol.54 , pp. 1396-1410
    • Kurtz, I.1
  • 11
    • 0001781860 scopus 로고    scopus 로고
    • Concomitant occurrence of Gitelman and Bartter syndrome in the same family?
    • Turman MA: Concomitant occurrence of Gitelman and Bartter syndrome in the same family? Pediatr Nephrol 12:23-25, 1998
    • (1998) Pediatr Nephrol , vol.12 , pp. 23-25
    • Turman, M.A.1
  • 13
    • 0035136314 scopus 로고    scopus 로고
    • Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
    • Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB: Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. Kidney Int 59:710-717, 2001
    • (2001) Kidney Int , vol.59 , pp. 710-717
    • Cruz, D.N.1    Shaer, A.J.2    Bia, M.J.3    Lifton, R.P.4    Simon, D.B.5
  • 14
    • 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
  • 15
    • 0026512508 scopus 로고
    • Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman 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 and Gitelman 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
  • 16
    • 0344897133 scopus 로고    scopus 로고
    • Assessing the degree of extracellular fluid volume contraction in a patient with a severe degree of hyperglycemia
    • Napolova O, Urbach S, Davids MR, Halperin ML: Assessing the degree of extracellular fluid volume contraction in a patient with a severe degree of hyperglycemia. Nephrol Dial Transplant 18:2674-2677, 2003
    • (2003) Nephrol Dial Transplant , vol.18 , pp. 2674-2677
    • Napolova, O.1    Urbach, S.2    Davids, M.R.3    Halperin, M.L.4
  • 19
    • 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
  • 20
    • 0036014925 scopus 로고    scopus 로고
    • Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome
    • De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, et al: Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 13:1442-1448, 2002
    • (2002) J Am Soc Nephrol , vol.13 , pp. 1442-1448
    • De Jong, J.C.1    Van Der Vliet, W.A.2    Van Den Heuvel, L.P.3
  • 22
    • 0036188716 scopus 로고    scopus 로고
    • Two novel mutations of thiazide-sensitive NaCl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome
    • Tajima T, Kobayashi Y, Abe SS, et al: Two novel mutations of thiazide-sensitive NaCl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocr J 49:91-96, 2002
    • (2002) Endocr J , vol.49 , pp. 91-96
    • Tajima, T.1    Kobayashi, Y.2    Abe, S.S.3
  • 23
    • 0037687590 scopus 로고    scopus 로고
    • Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalemic paralysis
    • Cheng NL, Kao MC, Hsu YD, Lin SH: Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalemic paralysis. Nephrol Dial Transplant 18:1005-1008, 2003
    • (2003) Nephrol Dial Transplant , vol.18 , pp. 1005-1008
    • Cheng, N.L.1    Kao, M.C.2    Hsu, Y.D.3    Lin, S.H.4
  • 24
    • 0017716972 scopus 로고
    • On the mechanism of polyuria in potassium depletion. The role of polyuria
    • Berl T, Linas SL, Aisenbrey GA, Anderson RJ: On the mechanism of polyuria in potassium depletion. The role of polyuria. J Clin Invest 60:620-625, 1977
    • (1977) J Clin Invest , vol.60 , pp. 620-625
    • Berl, T.1    Linas, S.L.2    Aisenbrey, G.A.3    Anderson, R.J.4
  • 25
    • 0029996150 scopus 로고    scopus 로고
    • Hypokalemia-induced down-regulation of aquaporin- 2 water channel expression in rat kidney medulla and cortex
    • Marples D, Frokiaer J, Dorup J, Knepper MA, Nielsen S: Hypokalemia-induced down-regulation of aquaporin-2 water channel expression in rat kidney medulla and cortex. J Clin Invest 97:1960-1968, 1996
    • (1996) J Clin Invest , vol.97 , pp. 1960-1968
    • Marples, D.1    Frokiaer, J.2    Dorup, J.3    Knepper, M.A.4    Nielsen, S.5
  • 27
    • 0036958738 scopus 로고    scopus 로고
    • Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome
    • Ring T, Knoers N, Oh MS, Halperin ML: Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. Pediatr Nephrol 17:612-616, 2002
    • (2002) Pediatr Nephrol , vol.17 , pp. 612-616
    • Ring, T.1    Knoers, N.2    Oh, M.S.3    Halperin, M.L.4
  • 28
    • 0030707887 scopus 로고    scopus 로고
    • Renal magnesium handling: New insights in understanding old problems
    • Quamme GA: Renal magnesium handling: New insights in understanding old problems. Kidney Int 52:1180-1195, 1997
    • (1997) Kidney Int , vol.52 , pp. 1180-1195
    • Quamme, G.A.1
  • 29
    • 0033695807 scopus 로고    scopus 로고
    • Divalent cation transport by the distal nephron: Insights from Bartter's and Gitelman's syndrome
    • Ellison DH: Divalent cation transport by the distal nephron: Insights from Bartter's and Gitelman's syndrome. Am J Physiol 279:F616-F625, 2000
    • (2000) Am J Physiol , vol.279
    • Ellison, D.H.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
    • 0031202897 scopus 로고    scopus 로고
    • Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter
    • Takeuchi K, Kato T, Taniyama Y, et al: Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter. Intern Med 36:582-585, 1997
    • (1997) Intern Med , vol.36 , pp. 582-585
    • Takeuchi, K.1    Kato, T.2    Taniyama, Y.3
  • 33
    • 0041429622 scopus 로고    scopus 로고
    • Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis
    • Fukuyama S, Okudaira S, Yamazato S, Yamazato M, Ohta T: Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. Kidney Int 64:808-816, 2003
    • (2003) Kidney Int , vol.64 , pp. 808-816
    • Fukuyama, S.1    Okudaira, S.2    Yamazato, S.3    Yamazato, M.4    Ohta, T.5
  • 34
    • 0028522485 scopus 로고
    • Influence of gender on renal thiazide diuretic receptor density and response
    • Chen Z, Vaughn DA, Fanestil DD: Influence of gender on renal thiazide diuretic receptor density and response. J Am Soc Nephrol 5:1112-1119, 1994
    • (1994) J Am Soc Nephrol , vol.5 , pp. 1112-1119
    • Chen, Z.1    Vaughn, D.A.2    Fanestil, D.D.3
  • 35
    • 0032523169 scopus 로고    scopus 로고
    • Estradiol enhances thiazide-sensitive NaCl cotransporter density in the apical plasma membrance of the distal convoluted tubule in ovariectomized rats
    • Verlander JW, Tran TM, Zhang L, Kaplan MR, Hebert SC: Estradiol enhances thiazide-sensitive NaCl cotransporter density in the apical plasma membrance of the distal convoluted tubule in ovariectomized rats. J Clin Invest 101:1661-1669, 1998
    • (1998) J Clin Invest , vol.101 , pp. 1661-1669
    • Verlander, J.W.1    Tran, T.M.2    Zhang, L.3    Kaplan, M.R.4    Hebert, S.C.5
  • 36
    • 17944373014 scopus 로고    scopus 로고
    • Human hypertension caused by mutations in WNK kinases
    • Wilson FH, Disse-Nocodeme S, Choate KA, et al: Human hypertension caused by mutations in WNK kinases. Science 293:1107-1112, 2001
    • (2001) Science , vol.293 , pp. 1107-1112
    • Wilson, F.H.1    Disse-Nocodeme, S.2    Choate, K.A.3
  • 37
    • 0037382807 scopus 로고    scopus 로고
    • WNK kinases regulate thiazide-sensitive Na-Cl cotransporter
    • Yang CL, Angell J, Mitchell R, Ellison DH: WNK kinases regulate thiazide-sensitive Na-Cl cotransporter. J Clin Invest 111:1039-1045, 2003
    • (2003) J Clin Invest , vol.111 , pp. 1039-1045
    • Yang, C.L.1    Angell, J.2    Mitchell, R.3    Ellison, D.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.