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山东大学学报(医学版) ›› 2016, Vol. 54 ›› Issue (12): 86-89.doi: 10.6040/j.issn.1671-7554.0.2016.1015

• 病例报道 • 上一篇    下一篇

两例家族性Gitelman综合征患者基因型和表型特点

梁璐,梁凯,蒋玲,张晓黎   

  1. 山东大学齐鲁医院内分泌科, 山东 济南 250012
  • 收稿日期:2016-08-18 出版日期:2016-12-10 发布日期:2016-12-10
  • 通讯作者: 张晓黎. E-mail: sallyzh66@sina.com E-mail:sallyzh66@sina.com

  • Received:2016-08-18 Online:2016-12-10 Published:2016-12-10

关键词: 性别, 低镁血症, Gitelman综合征, 基因检测

中图分类号: 

  • R737.14
[1] Gitelman HJ, Graham JB, Welt LG, et al. A new familial disorder characterized by hypokalemia and hypomagnesemia[J]. Trans Assoc Am Physicians, 1966, 79:221-235.
[2] 陈楠,秦岭,邵乐平,等.中国人Gitelman综合征高发突变的基因型和表型特征[J]. 肾脏病与透析肾移植杂志, 2008, 17(4):331-334. CHEN Nan, QIN Ling, SHAO Leping, et al. Characteristic of genotype-phenotype in Chinese patients with high frequency variant of Giteman syndrome[J]. J Nephrol Dialy Transplant, 2008, 17(4):331-334.
[3] Lemmink HH, Knoers NV, Káiolyi L, et al. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain [J]. Kidney Int, 1998, 54(3):720-730.
[4] Lin SH, Shiang JC, Huang CC, et al. Phenotype and genotype analysis in Chinese patients with Gitelmans syndrome [J]. J Clin Endocrinol Metab, 2005, 90(5):2500-2507.
[5] Balavoine AS, Bataille P, Vanhille P, et al. Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome [J]. Eur J Endocriol, 2011, 165(4):665-673.
[6] Tseng MH, Yang SS, Hsu YJ, 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-E1482.
[7] Lin SH, Cheng NL, Hsu YJ, et al. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter [J]. Am J Kidney Dis, 2004, 43(2):304-312.
[8] Verlander JW, Tran TM, 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):1661-1669.
[9] Jiang L, Chen C, Yuan T, et al. Clinical severity of Gitelman syndrome determined by serum magnesium [J]. Am J Nephrol, 2014, 39(4):357-366.
[10] 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):152-157.
[11] Knoers NV, Levtchenko EN. Gitelman syndrome [J]. Orphanet J Rare Dis, 2008, 3:22. doi:10.1186/1750-1172-3-22.
[12] Calo LA, Marchini F, Davis PA, et al. Kidney transplant in Gitelman's syndrome. Report of the first case[J]. J Nephrol, 2003, 16(1):144-147.
[13] Gutierrez M, Silveri F, Bertolazzi C, et al. Gitelman syndrome associated with chondrocalcinosis:description of two cases [J]. Reumatismo, 2010, 62(1):60-64.
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