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Volumn 16, Issue 2, 2012, Pages 306-309

Gitelman syndrome: Novel mutation and long-Term follow-up

Author keywords

Hypokalemia; Hypomagnesemia; SLC12A3 gene

Indexed keywords

ELECTROLYTE; HYDROCHLOROTHIAZIDE; INDOMETACIN; MAGNESIUM SULFATE; POTASSIUM; SODIUM CHLORIDE COTRANSPORTER; SPIRONOLACTONE;

EID: 84863725175     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-011-0542-x     Document Type: Article
Times cited : (18)

References (12)
  • 1
    • 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, Ellison D, Karet FE, Molina AM, 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. 1996;12: 24-30.
    • (1996) Nat Genet. , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3    Ellison, D.4    Karet, F.E.5    Molina, A.M.6
  • 2
    • 61649115626 scopus 로고    scopus 로고
    • Inherited forms of renal hypomagnesemia: An update
    • Knoers NV. Inherited forms of renal hypomagnesemia: An update. Pediatr Nephrol. 2009;24:697-705.
    • (2009) Pediatr Nephrol. , vol.24 , pp. 697-705
    • Knoers, N.V.1
  • 3
    • 0037082531 scopus 로고    scopus 로고
    • Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies
    • Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus GG, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002;112:183-90.
    • (2002) Am J Med. , vol.112 , pp. 183-190
    • Peters, M.1    Jeck, N.2    Reinalter, S.3    Leonhardt, A.4    Tonshoff, B.5    Klaus, G.G.6
  • 5
    • 78650640709 scopus 로고    scopus 로고
    • Gitelman syndrome in gypsy pediatric patients carrying the same intron 9 1 g[t mutation. Clinical features and impact on quality of life
    • Herrero-Morín JD, Rodríguez J, Coto E, Gil-Peña H, Alvarez V, Espinosa L, et al. Gitelman syndrome in Gypsy pediatric patients carrying the same intron 9 1 G[T mutation. Clinical features and impact on quality of life. Nephrol Dial Transpl. 2011;26: 151-5.
    • (2011) Nephrol Dial Transpl , vol.26 , pp. 151-155
    • Herrero-Morín, J.D.1    Rodríguez, J.2    Coto, E.3    Gil-Pena, H.4    Alvarez, V.5    Espinosa, L.6
  • 8
    • 84877087487 scopus 로고    scopus 로고
    • (accessed 29 April)
    • http://www.cdc.gov/growthcharts/percentile-data-files.htm (accessed 29 April 2011).
    • (2011)
  • 10
    • 34047239789 scopus 로고    scopus 로고
    • Transcriptional and functional analyses of slc12a3 mutations: New clues for the pathogenesis of gitelman syndrome
    • for the Belgian Network for the Study of Gitelman syndrome
    • Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, et al. for the Belgian Network for the Study of Gitelman syndrome. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol. 2007;18:1271-83.
    • (2007) J Am Soc Nephrol. , vol.18 , pp. 1271-1283
    • Riveira-Munoz, E.1    Chang, Q.2    Godefroid, N.3    Hoenderop, J.G.4    Bindels, R.J.5    Dahan, K.6
  • 11
    • 10544232272 scopus 로고    scopus 로고
    • Association of a mutation in thiazide-sensitive na-cl cotransporter with familial gitelman syndrome
    • Takeuchi K, Kure S, Kato T, Taniyama Y, Takahashi N, Ikeda Y, et al. Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman syndrome. J Clin Endocrinol Metab. 1996;81:4496-9.
    • (1996) J Clin Endocrinol Metab. , vol.81 , pp. 4496-4499
    • Takeuchi, K.1    Kure, S.2    Kato, T.3    Taniyama, Y.4    Takahashi, N.5    Ikeda, Y.6
  • 12
    • 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, van Dijk H, Niaudet P, Antignac C, 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. 1998;54:720-30.
    • (1998) Kidney Int. , vol.54 , pp. 720-730
    • Lemmink, H.H.1    Knoers, N.V.2    Karolyi, L.3    Van Dijk, H.4    Niaudet, P.5    Antignac, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.