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Gitelman综合征二例

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摘要 报道2例Gitelman综合征患者的临床资料，探讨Gitelman综合征的临床特点及与Bartter综合征的鉴别。
作者 范国洽 陈丽莉 白婧 张洁 周亚茹 王战建
机构地区 河北医科大学第三医院内分泌科河北省骨科生物力学重点实验室
出处 《中华全科医师杂志》 2013年第9期766-767,共2页 Chinese Journal of General Practitioners
关键词 GITELMAN综合征
分类号 R692.6 [医药卫生—泌尿科学]
  • 相关文献

参考文献10

  • 1Gitelman HJ, Graham JB, Welt LG. A familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians, 1966, 79:221-235.
  • 2Urbanovt M, Reiterovt J, Stkrovi J, et al. DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening. Folia Biol (Praha), 2011, 57:65-73.
  • 3Nijenhuis T, Vallon V, van der Kemp AW, et al. Enhanced passive Ca2 reabsorption and reduced Mg2 channel abundance explains thiazide-induced hypocalciuria and hyponaagnesemia. J Clin Invest, 2005, 115 : 1651-1658.
  • 4Bartter FC, Pronove P, Gill JR, et al. Hyperplasia of the jnxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am J Med, 1962, 33:811-828.
  • 5Fremont OT, Chan JC. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr, 2012. 8:25-30.
  • 6于迎,冯晓蓓,孟晓慧,李桂梅,任红,张文,潘晓霞,陈楠.遗传性低钾失盐性肾小管病临床分析[J].肾脏病与透析肾移植杂志,2007,16(2):141-145. 被引量：11
  • 7Riancho JA, Saro G, Safiudo C, et al. Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium- chloride transporter in blood cells. Nephrol Dial Transplant, 2006, 21:217-220.
  • 8Bettinelli A, Bianchetti MG, Girardin E, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemie alkalosis : Bartter and Gitelman syndromes. J Pediatr, 1992, 120:38-43.
  • 9Colussi G, Bettinelli A, Tedeschi S, et al. A thiazide test for the diagnosis of renal tubular hypokalenfic disorders. Clin J Am Soc Nephrol, 2007, 2:454-460.
  • 10Bonfante L, Davis PA, Spinello M, et al. Chronic renal failure, end-stage renal disease, andperitoneal dialysis in Gitelman' s syndrome. Am J Kidney Dis, 2001, 38:165-168.

二级参考文献17

  • 1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
  • 2Halushka 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.
  • 3Amirlak I, Dawson KP. Bartter syndrome: an overview. Q J Med, 2000, 93:207-215.
  • 4Peters 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.
  • 5Bartter 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.
  • 6Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians, 1966, 79:221 -223.
  • 7Simon 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.
  • 8Cruz 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.
  • 9Simon 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.
  • 10Pantanetti P, Amaldi G, Balercia G, et al. Severe hypomagesaemia induced hypocalcaemia in a patient with Gitelman's syndrome. Clin Endoerinol(oxf) , 2002, 56 : 413 -418.

共引文献10

中华全科医师杂志
2013年 第9期

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