|本期目录/Table of Contents|

[1]王雨婷,刘 朔,王 茜,等.儿童Gitelman综合征2例临床特点及基因分析[J].天津医科大学学报,2019,25(05):536-539.
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儿童Gitelman综合征2例临床特点及基因分析(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
25
期数:
2019年05期
页码:
536-539
栏目:
个例报道
出版日期:
2019-09-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2019)05-0536-04
作者:
王雨婷刘 朔王 茜吴楚姗冯 唯郑荣秀
(天津医科大学总医院儿科,天津 300052)
Author(s):
-
关键词:
Gitelman综合征SLC12A3基因基因突变儿童
Keywords:
-
分类号:
R725
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] Gitelman H J, Graham J B, Welt L G. A new familial disorder characterized by hypokalemia and hypomagnesemia[J]. Trans Assoc Am Physicians, 1966,79(2):221
[2] Tago N, Kokubo Y, Inamoto N, et al. A high prevalence of Gitelman’s syndrome mutations in Japanese[J]. Hypertens Res,2004,27(5):327
[3] 邵乐平,任红,王伟铭,等. 临床研究Gitelman综合征SLC12A3基因突变研究[J]. 中华肾脏病杂志,2007,23(6):351
[4] Lin S H, Shiang J C, Huang C C, et al. Phenotype and genotype analysis in Chinese patients with Gitelman’s syndrome[J]. Metabolism, 2005,90(5):2500
[5] Nakhoul F, Nakhoul N, Dorman E, et al. Gitelman’s syndrome: a pathophysiological and clinical update[J]. Endocrine,2012,41(1):53
[6] Gitelman综合征诊治专家共识协作组.Gitelman综合征诊治专家共识[J].中华内科杂志, 2017,56(9):712
[7] Simon D B, Nelson-Williams C, Bia M J, 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
[8] Kurtz I. Molecular pathogenesis of Bartter’s and Gitelman’s syndromes[J]. Kidney Int, 1998,54(4):1396
[9] 秦岭. Gitelman综合征[J].肾脏病与透析肾移植杂志,2008,17(1):72
[10] 石然然,李丛丛,方丽,等. Gitelman综合征的临床及基因诊断[J].中华内科杂志, 2017, 56(2):104
[11] 邵乐平, 逯静茹, 郎艳华,等. 中国Gitelman综合征患者的基因型,表型分析及随访研究[J].中华内分泌代谢杂志, 2017,33(1):40
[12] Ma J, Ren H, Lin L, et al. Genetic features of Chinese patients with gitelman syndrome: sixteen novel SLC12A3 mutations identified in a new cohort[J]. Am J Nephrol, 2016,44(2):113
[13] 秦岭,邵乐平,任红,等. Gitelman综合征的对表型的影响表型特点及性别因素[J].中华肾脏病杂志, 2009,25(7):532
[14] Riveira-Munoz E, Chang Q, Godefroid N, et al. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome[J]. J Am Soc Nephrol, 2007,18(4):1271
[15] Chen Z F, Vaughn D A, Fanestil D D. Influence of gender on renal thiazide diuretic receptor density and response[J]. J Am Soc Nephrol, 1994,5(4):1112
[16] Verlander J W, Tran T M, Zhang L, et al. Estradiol enhances thiazide-sensitive NaCl cotransporter density in the apical plasma membrane of the distal convoluted tubule in ovariectomized rats[J]. J Clin Invest,1998,101(8):1661
[17] 徐爱晶,苏玲,李秀珍,等.儿童Gitelman综合征3例临床特点及基因分析[J]. 临床儿科杂志, 2017,35(12):889
[18] Cruz D N, Shaer A J, Bia M J, et al. Gitelman’s syndrome revisited:An evaluation of symptoms and health-related quality of Life[J].Kidney Int, 2001,59(2):710
[19] Tseng M H, Yang S S, Hsu Y J, et al. Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation[J]. J Clin Endocrinol Metab,2012, 97(8):E1478
[20] Ren H, Qin L, Wang W, et al. Abnormal glucose metabolism and insulin sensitivity in Chinese patients with gitelman syndrome[J].Am J Nephrol, 2013,37(2):152

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备注/Memo

备注/Memo:
作者简介 王雨婷(1993-),女,硕士在读,研究方向:儿科内分泌;通信作者:郑荣秀,E-mail:rzheng@tmu.edu.cn。
更新日期/Last Update: 2019-10-11