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Gitelman综合征研究进展 被引量：3

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摘要 Gitelman综合征是常染色体隐性遗传病（OMIM263800），是肾单位远曲小管重吸收NaCl障碍造成的原发肾性失盐性疾病，临床特征表现为正常或偏低的血压，肾素-血管紧张素-醛固酮系统激活以及低氯性碱中毒、低血钾、低血镁和低尿钙，又称低尿钙变异型Bartter综合征。Gitelman综合征常是由位于染色体16q13的SLC12A3基因失活突变引起的，该基因编码噻嗪类利尿剂敏感共同Na^＋-Cl^-共转运子NCCT。目前已发现100余个SLC12A3基因突变位点可能与Gitelman综合征有关。Gitelman综合征有高度的遗传异质性和表型多样性。爪蟾卵母细胞的功能表达是研究特异SLC12A3突变体的重要方法。
作者 邵乐平（综述） 陈楠（审校）
机构地区 交通大学医学院附属瑞金医院肾脏科
出处 《国际泌尿系统杂志》 2007年第5期691-694,共4页 International Journal of Urology and Nephrology
基金 国家自然科学基金资助项目（30670972）,上海市卫生局重点学科基金（05III001）,上海市重点学科（T0202）,上海市卫生局重点课题（2003ZD002）.
关键词 巴特病 综合征
分类号 R586.2 [医药卫生—内分泌]
  • 相关文献

参考文献17

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  • 4Simon DB, Nelson - Williams C, Bia M J, et al. Gitehnan's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide- sensitive Na- Cl cotransporter. Nat Genet ,1996,12(1):24 -30. 被引量：1
  • 5Tago N, Kokubo Y, Inamoto N, et al. A high prevalence of Gitelman syndrome mutations in Japanese. Hypertens Res ,2004,27 ( 5 ) :327 -331. 被引量：1
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二级参考文献22

  • 1王平芳,廖二元.肾脏与内分泌.见:廖二元,赵楚生主编.内分泌学.北京:人民卫生出版社,2001.2208-2209. 被引量：3
  • 2Ea HK,Blanchard A,Dougados M,et al.Chondrocalcinosis Secondary to Hypomagnesemia in Gitelman's Syndrome.J Rheumatol,2005,32(9):1840-1842. 被引量：1
  • 3Calo LA,Pagnin E,Davis PA,et al.Oxidative stress-related factors in Bartter's and Gitelman's syndromes:relevance for angiotensin Ⅱ signalling.Nephrol Dial Transplant,2003,18 (8):1518-1525. 被引量：1
  • 4Komhoff M,Tekesin I,Peters M,et al.Perinatal management of a preterm neonate affected by hyperprostaglandin E2 syndrome (HPS).Acta Paediatr,2005,94(11):1690-1693. 被引量：1
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  • 7Garcia-Nieto V,Flores C,Luis -Yanes MI,et al.Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.Pediatr Nephrol,2006,21 (5):643 -648. 被引量：1
  • 8Starremans PG,Kersten FF,Knoers NV,et al.Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.J Am Soc Nephrol,2003,14(6):1419-1426. 被引量：1
  • 9Reinalter SC,Jeck N,Peters M,et al.Pharmacotyping of hypokalaemic salt-losing tubular disorders.Acta Physiol Scand,2004,181(4):513-521. 被引量：1
  • 10Cho JT,Guay-Woodford LM.Heterozygous Mutations of The Gene for Kir 1.1 (ROMK) in Antenatal Bartter Syndrome Presenting with Transient Hyperkalemia,Evolving to a Benign Course.J Korean Med Sci,2003,18(1):65 -68. 被引量：1

共引文献8

同被引文献32

  • 1郑卉,张成,熊符.干细胞移植治疗Duchenne型肌营养不良症的研究进展[J].中华神经医学杂志,2006,5(11):1182-1183. 被引量：3
  • 2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
  • 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. 被引量：1
  • 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. 被引量：1
  • 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. 被引量：1
  • 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. 被引量：1
  • 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. 被引量：1
  • 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. 被引量：1
  • 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. 被引量：1
  • 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. 被引量：1

引证文献3

二级引证文献12

国际泌尿系统杂志
2007年 第5期

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