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Gitelman综合征合并成人隐匿性自身免疫糖尿病一例报道 被引量：1

Gitelman syndrome with latent autoimmune diabetes in adults： one case report
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摘要 Gitelman综合征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，可以导致低钾血症及继发性醛固酮增多症。本院近期收治1例Gitelman综合征合并成人隐匿性自身免疫糖尿病，现将该病例报道如下。患者男性．51岁，因发现血糖升高10年、乏力2年余于2013年6月3日人院，患者10年前无意中发现血糖升高，经口服降糖药物治疗2年，由于血糖控制欠佳改胰岛素治疗，此次因为血糖控制不佳伴乏力2年入院，
作者 查兵兵 刘军 王芳 徐炯 黄新梅 孙田歌
机构地区 复旦大学附属上海市第五人民医院内分泌科
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2014年第7期627-628,共2页 Chinese Journal of Endocrinology and Metabolism
关键词 GITELMAN综合征 隐匿性自身免疫糖尿病 成人 继发性醛固酮增多症 血糖控制不佳 血糖升高 胰岛素治疗 NACL
分类号 R587.1 [医药卫生—内分泌]
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参考文献11

  • 1Gitelman HJ,Graham JB,Welt LG.A new familial disorder characterized by hypokalemia and hypomagnesemia[J].Trans Assoc Am Physicians,1966,79:221-235.
  • 2Iida K,Hanafusa M,Maekawa I,et al.A novel splice site mutation of the thiazide-sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome[J].Clin Nephrol,2004,62:180-184.
  • 3Park PGJr,Karet Frankl FE.Gitelman syndrome[J].BMJ,2012,344:e3590.
  • 4李鹏,黄建萍.Bartter综合征分子遗传学研究进展[J].临床儿科杂志,2007,25(4):259-262. 被引量：9
  • 5Simon DB,Nelson-Williams C,Bia MJ,et al.Gitelman' svariant of Bartter's syndrome,inherited hypokalaemic alkalosis,is caused by mutations in the thiazide-sensitive Na-Cl cotransporter[J].Nat Genet,1996,12:24-30.
  • 6Vargas-Poussou R,Dahan K,Kahila D,et al.Spectrum of mutations in Gitelman syndrome[J].J Am See Nephrol,2011,22:693-703.
  • 7Ji W,Foo JN,O'Roak BJ,et al.Rare independent mutations in renal salt handling genes contribute to blood pressure variation[J].Nat Genet,2008,40:592-599.
  • 8林纬,张小凯,黄惠彬,温俊平,蔡清颜,庄维特,陈刚.Gitelman综合征的临诊应对[J].中华内分泌代谢杂志,2011,27(12):1028-1031. 被引量：5
  • 9Kim YK,Song HC,Kim WY,et al.Acquired Gitelman syndrome in a patient with primary Sjogren syndrome[J].Am J Kidney Dis,2008,52:1163-1167.
  • 10Walsh S,Turner CM,Toye A,et al.Immunohistochemical comparison of a case of inherited distal renal tubular acidosis (with a unique AE1 mutation) with an acquired case secondary to autoimmune disease[J].Nephrol Dial Transplant,2007,22:807-812.

二级参考文献36

  • 1Gitelman HI,Grahame JB,Weh LG.A new familial disorder characterized by hypokalemia and hypomagesemia.Tram Assoc Am Phys,1966,79:211-223.
  • 2Simon 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.
  • 3Riveira-munoz E,Chang Q,Bindels RJ,et al.Gitelman's syndrome:towards genotype-phenotype correlations? Pediatr Nephro,2007,22:326-332.
  • 4Mastroianni N,De Fusco M,Zollo M,et al.Molecular cloning,expression pattern,and chromosomal localization of the human Na-Cl thiaside-sensitive cotransporter (SLC12A3).Genomics,1996,35:486-493.
  • 5Tago N,Kokubo Y,Lnamoto N,et al.A high prevalence of Gitelman's syndrome mutations in Japanese.Hypertens Res,2004,27:327-331.
  • 6Reissinger A,Ludwig M,Utsch B,et al.Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.Kidney Blood Press Res,2002,25:354-362.
  • 7Riveira-munoz E,Chang Q,Godefroid N,et al.Transcriptional and functional analyses of slc12a3 mutations:New clues for the pathogenesis of Gitelman syndrome.J Am Soc Nephrol,2007,18:1271-1283.
  • 8Lin 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.
  • 9Chen Z,Vaughn DA,Fanestil DD.Influence of gender on renal thiazide diuretic receptor density and response.J Am Soc Nephrol,1994,5:1112-1119.
  • 10Verlander JW,Tran TM,Zhang L,et al.Estradiol enhances thiazide-sensitive NaCI cotransporter density in the apical plasma membrane of the distal convoluted tubule in ovariectomized rats.J Clin Invest,1998,101:1661-1669.

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中华内分泌代谢杂志
2014年 第7期

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