[1]王静 张玲玉 范红旗 秦瑶 张梅.SLC12A3基因新突变致Gitelman综合征1例[J].国际内分泌代谢杂志,2019,39(05):357-360.[doi:10.3760/cma.j.issn.1673-4157.2019.05.017]
 Wang Jing,Zhang Lingyu,Fan Hong-qi,et al.A new mutation in SLC12A3 gene causes Gitelman syndrome[J].International Journal of Endocrinology and Metabolism,2019,39(05):357-360.[doi:10.3760/cma.j.issn.1673-4157.2019.05.017]
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SLC12A3基因新突变致Gitelman综合征1例()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
39
期数:
2019年05期
页码:
357-360
栏目:
病例报告
出版日期:
2019-09-20

文章信息/Info

Title:
A new mutation in SLC12A3 gene causes Gitelman syndrome
作者:
王静 张玲玉 范红旗 秦瑶 张梅
南京医科大学第一附属医院内分泌科 210029
Author(s):
Wang Jing Zhang Lingyu Fan Hong-qi Qin Yao Zhang Mei
Department of Endocrinology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
DOI:
10.3760/cma.j.issn.1673-4157.2019.05.017

参考文献/References:

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[4] Simon DB,Nelson-Williams C,Bia MJ,et al.Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter[J].Nat Genet,1996,12(1):24-30. DOI:10.1038/ng0196-24.
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[7] Gitelman HJ,Graham JB,Welt LG.A new familial disorder characterized by hypokalemia and hypomagnesemia[J].Trans Assoc Am Physicians,1966,79:221-235.
[8] De 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].J Am Soc Nephrol,2002,13(6):1442-1448.DOI:10.1097/01.asn.0000017904.77985.03.
[9] Nijenhuis T,Vallon V,van der Kemp AW,et al.Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia[J].J Clin Invest,2005,115(6):1651-1658.DOI:10.1172/JCI24134.
[10] Kurtz I. Molecular pathogenesis of Bartter's and Gitelman's syndromes[J].Kidney Int,1998,54(4):1396-1410.DOI:10.1046/j.1523-1755.1998.00124.x.
[11] Desai M,Kolla PK,Reddy PL.Calcium unresponsive hypocalcemic tetany: Gitelman syndrome with hypocalcemia[J].Case Rep Med,2013,2013:197374.DOI:10.1155/2013/197374.
[12] Graziani G,Fedeli C,Moroni L,et al.Gitelman syndrome: pathophysiological and clinical aspects[J].QJM,2010,103(10):741-748.DOI:10.1093/qjmed/hcq123.
[13] Luo J,Yang X,Liang J,et al.A pedigree analysis of two homozygous mutant Gitelman syndrome cases[J].Endocr J,2015,62(1):29-36.DOI:10.1507/endocrj.EJ14-0289.
[14] Gamba G.Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters[J].Physiol Rev,2005,85(2):423-493.DOI:10.1152/physrev.00011.2004.
[15] Xia MF,Bian H,Liu H,et al.Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review[J].Clin Case Rep,2017,5(5):578-586.DOI:10.1002/ccr3.874.
[16] Knoers NV,Levtchenko EN.Gitelman syndrome[J].Orphanet J Rare Dis,2008,3:22. DOI:10.1186/1750-1172-3-22.

备注/Memo

备注/Memo:
通信作者:张梅,Email:zhangmei@njmu.edu.cn
Corresponding author: Zhang Mei, Email: zhangmei@njmu.edu.cn
基金项目:国家自然科学基金(81070622,81370939,81670756); 江苏省“333高层次人才培养工程”(2016-7)
Fund program:National Natural Science Foundation of China(81070622, 81370939, 81670756); Jiangsu Province "333 High-level Talent Cultivation Project"(2016-7)
更新日期/Last Update: 2019-09-20