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Gitelman综合征 被引量:10

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作者 秦岭 陈楠
出处 《肾脏病与透析肾移植杂志》 CAS CSCD 2008年第1期72-75,共4页 Chinese Journal of Nephrology,Dialysis & Transplantation
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参考文献26

  • 1Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians, 1966,79:221 - 235.
  • 2Seyberth H, Soergel M, Koeckerling A. Hypokalaemic tubular disorders: The hyperprostaglandin E syndrome and Gitelman-Bartter syndrome. In: Oxford Textbook of Clinical Nephrology,2nd ed, Davison AM, Cameron JS, Gru nfeld JP, Kerr DN, Ritz E,eds. Oxford, Oxford University Press, 1998, 1085 - 1094.
  • 3Tago N, Kokubo Y, Inamoto N, et al. A high prevalence of Gitelman's syndrome mutations in Japanese. Hypertens Res,2004,27 (5) :327 -331.
  • 4Riveira-munoz E, Chang Q, Godefroid N, et al. Transcriptional and Functional Analyses of SLC12A3Mutations: New Clues for the Pathogenesis of Gitelman Syndrome. J Am Soc Nephrol, 2007, 18 : 1271 - 1283.
  • 5Melander O, Orho-Melander M, Bengtsson K, et al. Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension. Hypertension ,2000,36 : 389 - 394.
  • 6Simon DB, Nelson Williams C, Bia MJ, et al. Gitelmang variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet, 1996 ,12( 1 ) :24 -30.
  • 7Riveira-munoz E, Chang Q, Bindels RJ,et al. Gitelman's syndrome: towards genotype-phenotype correlations? Pedlatr Nephro, 2007,22 : 326 - 332.
  • 8Mastroianni N, De Fusco M, Zollo M, et al. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensifive cotransporter ( SLC12A3 ). Genomics, 1996, 35 (3) :486 -493.
  • 9De 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 Sec Nephrol,2002,13 : 1442 - 1448.
  • 10Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension, 2001,37 : 1458 - 1464.

二级参考文献32

  • 1徐明彤,丁鹤林,严励,程桦.Gitelman综合征一例报告[J].中华肾脏病杂志,2005,21(1):58-58. 被引量:3
  • 2江永娣,傅秀兰,陈楠,董德长,储谦.Bartter综合征的诊断和治疗(附4例报道)[J].中华内分泌代谢杂志,1995,11(1):57-58. 被引量:7
  • 3Halushka PV, Wohltmann H, Pfivitera PJ, et al. Bartter's syndrome: urinary prostaglandin E-like material and kallikrein; indomethacin effects. Am J Med ,1977, 87:281 -286.
  • 4Amirlak I, Dawson KP. Bartter syndrome: an overview. Q J Med, 2000, 93:207-215.
  • 5Peters M, Jeck N, Reinalter S, et al. Clinical Presentation of Genetically Defined Patients with Hypokalemic Salt-losing Tubulopathies. Am J Med, 2002, 112(3): 183-190.
  • 6Bartter FC, Pronove P, Gill JR, et al. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis-a new syndrome. Am J Med,1962, 33:811 -828.
  • 7Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians, 1966, 79:221 -223.
  • 8Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter' s syndrome type Ⅲ. Nat Genet, 1997, 17:171-178.
  • 9Cruz DN, Shaer AJ, Bia MJ, et al. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int, 2001,59:710 -717.
  • 10Simon 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, 1996, 12:24-30.

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二级引证文献35

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