메뉴 건너뛰기




Volumn 50, Issue 5, 2007, Pages 765-773

Reduced Urinary Excretion of Thiazide-Sensitive Na-Cl Cotransporter in Gitelman Syndrome: Preliminary Data

Author keywords

Gitelman syndrome; immunohistochemistry; mutation analysis; sodium chloride cotransporter; urinary sodium chloride cotransporter

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ANTIBODY; AQUAPORIN 2; CALBINDIN; CHLORIDE; FUROSEMIDE; SODIUM CHLORIDE COTRANSPORTER; SODIUM POTASSIUM CHLORIDE COTRANSPORTER;

EID: 35348821160     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2007.07.022     Document Type: Article
Times cited : (40)

References (28)
  • 1
    • 0013976561 scopus 로고
    • A new familial disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman H.J., Graham J.B., and Welt L.G. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79 (1966) 221-235
    • (1966) Trans Assoc Am Physicians , vol.79 , pp. 221-235
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 2
    • 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 D.B., Nelson-Williams C., Bia M.J., 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 (1996) 24-30
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3
  • 3
    • 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 59 (1996) 1019-1026
    • (1996) Am J Hum Genet , vol.59 , pp. 1019-1026
    • Mastroianni, N.1    Bettinelli, A.2    Bianchetti, M.3
  • 4
    • 15544384004 scopus 로고    scopus 로고
    • Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters
    • Gamba G. Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters. Physiol Rev 85 (2005) 423-493
    • (2005) Physiol Rev , vol.85 , pp. 423-493
    • Gamba, G.1
  • 5
    • 0028945391 scopus 로고
    • Possible discriminations of Gitelman's syndrome from Bartter's syndrome by renal clearance study: Report of two cases
    • Tsukamoto T., Kobayashi T., Kawamoto K., Fukase M., and Chihara K. Possible discriminations of Gitelman's syndrome from Bartter's syndrome by renal clearance study: Report of two cases. Am J Kidney Dis 25 (1995) 637-641
    • (1995) Am J Kidney Dis , vol.25 , pp. 637-641
    • Tsukamoto, T.1    Kobayashi, T.2    Kawamoto, K.3    Fukase, M.4    Chihara, K.5
  • 6
    • 0032710270 scopus 로고    scopus 로고
    • Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome
    • Yahata K., Tanaka I., Kotani M., et al. Identification of a novel R642C mutation in Na/Cl cotransporter with Gitelman's syndrome. Am J Kidney Dis 34 (1999) 845-853
    • (1999) Am J Kidney Dis , vol.34 , pp. 845-853
    • Yahata, K.1    Tanaka, I.2    Kotani, M.3
  • 7
    • 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 (2000) 65-70
    • (2000) J Am Soc Nephrol , vol.11 , pp. 65-70
    • Monkawa, T.1    Kurihara, I.2    Kobayashi, K.3
  • 8
    • 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 (2003) 24-32
    • (2003) Kidney Int , vol.63 , pp. 24-32
    • Zelikovic, I.1    Szargel, R.2    Hawash, A.3
  • 9
    • 0742270766 scopus 로고    scopus 로고
    • Intrafamilial phenotypic variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter
    • Lin S.H., Cheng N.L., Hsu Y.J., and Halperin M.L. Intrafamilial phenotypic variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis 43 (2004) 304-312
    • (2004) Am J Kidney Dis , vol.43 , pp. 304-312
    • Lin, S.H.1    Cheng, N.L.2    Hsu, Y.J.3    Halperin, M.L.4
  • 10
    • 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 (2002) 183-190
    • (2002) Am J Med , vol.112 , pp. 183-190
    • Peters, M.1    Jeck, N.2    Reinalter, S.3
  • 11
  • 12
    • 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 J.C., Van Der Vliet W.A., Van Den Heuvel L.P., Willems P.H., Knoers N.V., and Bindels R.J. Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 13 (2002) 1442-1448
    • (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    Willems, P.H.4    Knoers, N.V.5    Bindels, R.J.6
  • 14
    • 4444226979 scopus 로고    scopus 로고
    • Identification and proteomic profiling of exosomes in human urine
    • Pisitkun T., Shen R.F., and Knepper M.A. Identification and proteomic profiling of exosomes in human urine. Proc Natl Acad Sci U S A 101 (2004) 13368-13373
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 13368-13373
    • Pisitkun, T.1    Shen, R.F.2    Knepper, M.A.3
  • 15
    • 0036203946 scopus 로고    scopus 로고
    • Human cortical distal nephron: Distribution of electrolyte and water transport pathways
    • Biner H.L., Arpin-Bott M.P., Loffing J., et al. Human cortical distal nephron: Distribution of electrolyte and water transport pathways. J Am Soc Nephrol 13 (2002) 836-847
    • (2002) J Am Soc Nephrol , vol.13 , pp. 836-847
    • Biner, H.L.1    Arpin-Bott, M.P.2    Loffing, J.3
  • 16
    • 5444270436 scopus 로고    scopus 로고
    • Antidiuretic action of oxytocin is associated with increased urinary excretion of aquaporin-2
    • Joo K.W., Jeon U.S., Kim G.H., et al. Antidiuretic action of oxytocin is associated with increased urinary excretion of aquaporin-2. Nephrol Dial Transplant 19 (2004) 2480-2486
    • (2004) Nephrol Dial Transplant , vol.19 , pp. 2480-2486
    • Joo, K.W.1    Jeon, U.S.2    Kim, G.H.3
  • 17
    • 0032791379 scopus 로고    scopus 로고
    • Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?
    • Bettinelli A., Rusconi R., Ciarmatori S., et al. Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?. Pediatr Res 46 (1999) 232-238
    • (1999) Pediatr Res , vol.46 , pp. 232-238
    • Bettinelli, A.1    Rusconi, R.2    Ciarmatori, S.3
  • 18
    • 0346732046 scopus 로고    scopus 로고
    • A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies
    • Coto E., Rodriguez J., Jeck N., et al. A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies. Kidney Int 65 (2004) 25-29
    • (2004) Kidney Int , vol.65 , pp. 25-29
    • Coto, E.1    Rodriguez, J.2    Jeck, N.3
  • 19
    • 3242671652 scopus 로고    scopus 로고
    • Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease
    • Sabath E., Meade P., Berkman J., et al. Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease. Am J Physiol Renal Physiol 287 (2004) F195-F203
    • (2004) Am J Physiol Renal Physiol , vol.287
    • Sabath, E.1    Meade, P.2    Berkman, J.3
  • 20
    • 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 (1999) F643-F649
    • (1999) Am J Physiol , vol.277
    • Kunchaparty, S.1    Palcso, M.2    Berkman, J.3
  • 21
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng P.C., and Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31 (2003) 3812-3814
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 22
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V., Bork P., and Sunyaev S. Human non-synonymous SNPs: Server and survey. Nucleic Acids Res 30 (2002) 3894-3900
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 23
    • 33644867836 scopus 로고    scopus 로고
    • Functional confirmation of Gitelman's syndrome mutations in Japanese
    • Naraba H., Kokubo Y., Tomoike H., and Iwai N. Functional confirmation of Gitelman's syndrome mutations in Japanese. Hypertens Res 28 (2005) 805-809
    • (2005) Hypertens Res , vol.28 , pp. 805-809
    • Naraba, H.1    Kokubo, Y.2    Tomoike, H.3    Iwai, N.4
  • 24
    • 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 H.H., Knoers N.V., 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 (1998) 720-730
    • (1998) Kidney Int , vol.54 , pp. 720-730
    • Lemmink, H.H.1    Knoers, N.V.2    Karolyi, L.3
  • 25
    • 18144453861 scopus 로고    scopus 로고
    • Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome
    • Syren M.L., Tedeschi S., Cesareo L., et al. Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome. Hum Mutat 20 (2002) 1-5
    • (2002) Hum Mutat , vol.20 , pp. 1-5
    • Syren, M.L.1    Tedeschi, S.2    Cesareo, L.3
  • 26
    • 33749386424 scopus 로고    scopus 로고
    • - cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion
    • - cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion. J Biol Chem 281 (2006) 28755-28763
    • (2006) J Biol Chem , vol.281 , pp. 28755-28763
    • Pacheco-Alvarez, D.1    Cristobal, P.S.2    Meade, P.3
  • 27
    • 0036958738 scopus 로고    scopus 로고
    • Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome
    • Ring T., Knoers N., Oh M.S., and Halperin M.L. Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. Pediatr Nephrol 17 (2002) 612-616
    • (2002) Pediatr Nephrol , vol.17 , pp. 612-616
    • Ring, T.1    Knoers, N.2    Oh, M.S.3    Halperin, M.L.4
  • 28
    • 33747058458 scopus 로고    scopus 로고
    • From bench to bedside: Diagnosis of Gitelman's syndrome-defect of sodium-chloride cotransporter in renal tissue
    • Jang H.R., Lee J.W., Oh Y.K., et al. From bench to bedside: Diagnosis of Gitelman's syndrome-defect of sodium-chloride cotransporter in renal tissue. Kidney Int 70 (2006) 813-817
    • (2006) Kidney Int , vol.70 , pp. 813-817
    • Jang, H.R.1    Lee, J.W.2    Oh, Y.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.