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Gitelman综合征合并甲状腺疾病：两例患者SLC12A3基因分析 被引量：11

Coexistence of Gitelman＇s syndrome and thyroid disease： SLC12A3 gene analysis in two patients
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摘要 对合并甲状腺疾病的2例Gitelman综合征可疑患者及家庭成员进行SLC12A3基因分析，证实2例患者均为SLC12A3基因的复合杂合突变，3个新突变位点被发现。本研究提示Gitelman综合征有时与其他低血钾相关的疾病，如甲亢并存，临床应注意鉴别。 Two patients with coexistence of thyroid disease and suspected Gitelman＇s syndrome underwent SLC12A3 gene analysis. The results confirmed that both patients were compound heterozygotes of SLC12A3 gene mutation. Three novel variants of SLC12A3 were found in this study. This report suggests that Gitelman＇s syndrome may coexist with other disorders associated with hypokalemia,such as Graves＇ disease.
作者 董晖 郎艳华 邵泽平 李林 邵乐平
机构地区 青岛大学医学院附属医院肾脏内科 青岛大学医学院附属医院成人注射室 诸城市人民医院西区内科
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2010年第5期395-398,共4页 Chinese Journal of Endocrinology and Metabolism
关键词 GITELMAN综合征 GRAVES病 低血钾 突变 SLC12A3 Gitelman＇s syndrome Graves＇ disease Hypokalemia Mutation SLC12A3
分类号 R692 [医药卫生—泌尿科学] R581 [医药卫生—内分泌]
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参考文献14

  • 1邵乐平,任红,王伟铭,张文,李晓,潘晓霞,宋怀东,陈楠.Gitelman综合征SLC12A3基因突变研究[J].中华肾脏病杂志,2007,23(6):351-356. 被引量：24
  • 2邵乐平（综述）,陈楠（审校）.Gitelman综合征研究进展[J].国际泌尿系统杂志,2007,27(5):691-694. 被引量：3
  • 3Simon 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.Nat Genet,1996,12:24-30.
  • 4Mastroianni N,De Fusco M,Zollo M,et al.Molecular cloning,expression pattern,and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).Cenomics,1996,35:486-493.
  • 5Shao L,Liu L,Miao Z,et al.A novel SLC1 2A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.Am J Nephrol,2008,28:900-907.
  • 6Shao L,Ren H,Wang W,et al.Novel SLC1 2A3 mutations in Chinese patients with Gitelman's syndrome.Nephron Physiol,2008,108:29-36.
  • 7Oin L,Shao L,Ren H,et al.Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.Nephrology,2009,14:52-58.
  • 8Miao Z.Gao Y,Shao L,et al.Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na-Cl cotransporter mutations.Eur J Endocrinol,2009,161:275-283.
  • 9Lin SH,Cheng NL,Hsu YJ,et al.Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive NaCl cotransporter.Am J Kidney Dis,2004,43:304-312.
  • 10Maki N,Komatsuda A,Wakui H,et al.Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients withGitelman's syndrome.Nephrol Dial Transplant,2004,19:1761-1766.

二级参考文献32

  • 1徐明彤,丁鹤林,严励,程桦.Gitelman综合征一例报告[J].中华肾脏病杂志,2005,21(1):58-58. 被引量：3
  • 2周美央（综述）,梁华（审校）.巴特综合征研究进展[J].国际泌尿系统杂志,2007,27(1):124-129. 被引量：9
  • 3Mastroianni N, Bettinelli A, Bianchetti M, et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet, 1996, 59:1019-1026.
  • 4Pollak MR, Delaney VB, Graham RM, et al. Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. J Am Soc Nephrol, 1996, 7:2244-2248.
  • 5Simon 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. Nat Genet, 1996, 12:24-30.
  • 6Simon DB, Bindra RS, Mansfield TA, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type Ⅲ. Nat Genet, 1997, 17:171-175.
  • 7Zelikovie I, Szargel R, Hawash A, et al. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int, 2003, 63:24- 32.
  • 8Jeck N, Konrad M, Peters M, et al. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter- Gitelman phenotype. Pediatr Res, 2000, 48:754-758.
  • 9Lin SH, Shiang JC, Huang CC, et al. Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. J Clin Endocrinol Metab, 2005, 90:2500-2507.
  • 10Maki N, Komatsuda A, Wakui H, et al. Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. Nephrol Dial Transplant, 2004, 19:1761 - 1766.

共引文献24

同被引文献115

引证文献11

二级引证文献51

中华内分泌代谢杂志
2010年 第5期

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