Gitelman综合征二例
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。
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
参考文献10
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1Gitelman HJ, Graham JB, Welt LG. A familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians, 1966, 79:221-235.
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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.
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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.
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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.
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5Fremont OT, Chan JC. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr, 2012. 8:25-30.
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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
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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.
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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.
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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.
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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
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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
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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.
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3Amirlak I, Dawson KP. Bartter syndrome: an overview. Q J Med, 2000, 93:207-215.
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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.
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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.
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6Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians, 1966, 79:221 -223.
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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.
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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.
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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.
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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
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1秦岭,陈楠.Gitelman综合征[J].肾脏病与透析肾移植杂志,2008,17(1):72-75. 被引量:10
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2王琼,任红,陈楠.低钾性碱中毒[J].中华肾脏病杂志,2009,25(1):68-70.
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3张翀,秦岭,邵乐平,王朝晖,王伟铭,任红,张文,严富洪,谢静远,陈楠.低钾失盐性肾小管病患者WNK基因突变研究[J].上海交通大学学报(医学版),2009,29(11):1344-1350. 被引量:1
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4于迎,潘晓霞,任红,王伟铭,陈楠.成人经典型Bartter综合征家系CLCNKB基因突变的研究[J].中华肾脏病杂志,2010,26(8):598-602. 被引量:8
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5张朝明,郭晖.Gitelman综合征并附2例报道[J].中国实验诊断学,2011,15(3):549-551. 被引量:1
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6王朝晖,谢静远,马骏,潘晓霞,任红,沈平雁,张文,王伟铭,杨俪,郝旭,张春丽,陈楠.遗传性肾脏疾病单中心3年临床调查[J].中国实用内科杂志,2014,34(3):254-257. 被引量:4
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7孙璐,唐咸玉,赵晓华,范冠杰,危建安.难治性Gitelman综合征1例及临床诊疗体会[J].中国现代医学杂志,2016,26(6):134-138. 被引量:1
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8陈楠.Gitelman综合征:早期诊断,早期治疗[J].中华内科杂志,2017,56(9):639-640. 被引量:8
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9郭琴,张翀.低钾失盐性肾小管病的研究进展[J].上海交通大学学报(医学版),2018,38(9):1109-1115. 被引量:2
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10李锦新,路荣梅,林纬,陈刚,温俊平.急诊低钾患者中Gitelman综合征的临床特点及基因分析[J].创伤与急诊电子杂志,2019,7(3):120-126.
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1段宇,罗兰,张春玉,王云,张小兰,狄福松,刘超.Gitelman综合征合并原发性甲状腺功能减退症一例[J].中华全科医师杂志,2009,8(4):269-270.
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2秦岭,陈楠.Gitelman综合征[J].肾脏病与透析肾移植杂志,2008,17(1):72-75. 被引量:10
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3刘崇斌,潘银凤,孙洪涛.Gitelman综合征一例报告[J].养生保健指南(医药研究),2016,0(6):58-58.
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4林纬,张小凯,黄惠彬,温俊平,蔡清颜,庄维特,陈刚.Gitelman综合征的临诊应对[J].中华内分泌代谢杂志,2011,27(12):1028-1031. 被引量:5
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5刘旭东,刘海娜,方芳,田百玲,杨娉婷,肖卫国.干燥综合征合并获得性Gitelman综合征二例并文献复习[J].中华风湿病学杂志,2012,16(5):333-335.
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6王艳,韩正斌,邵乐平,栾健,刘军.10例Gitelman综合征患者SLC12A3基因的检测[J].肾脏病与透析肾移植杂志,2015,24(5):419-424. 被引量:2
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7努荣古丽买买提,张化冰,邢小平.一例维吾尔族Gitelman综合征患者的临床与基因突变分析[J].协和医学杂志,2015,6(6):427-431.
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8姜艳,浦泳冰,金自孟,曾正陪.Gitelman综合征一例报告[J].北京医学,2002,24(2):142-142. 被引量:3
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9苗苗,赵超群,刘静,李金慧,王晓黎,单忠艳.6例Gitelman综合征患者的临床及基因学分析[J].中国医科大学学报,2016,45(7):649-652. 被引量:3
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10陈芬琴,王涤非,刘珂,吴坤艳,张艳玲,赵岩.Gitelman综合征:附1例报道并文献复习[J].中国医科大学学报,2016,45(6):563-566. 被引量:2