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遗传性肾小管疾病 被引量：1

Hereditary tubular diseases
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摘要 肾小管上皮细胞具有一系列离子通道和转运体，对于选择性重吸收或排泌各种离子、调节水电解质和酸碱平衡、维持人体内环境的稳定具有重要作用，其功能的重要性并不亚于肾小球引起肾小管疾病的原因很多，包括获得性和先天性两大因素，分子遗传学的进展以及其在肾脏疾病的应用，已经确定了一系列遗传性肾小管疾病的分子缺陷，这些遗传性肾小管疾病尽管属于少见病，却为研究肾小管功能以及高血压发病机制提供了天然模型，并且部分患者如果早期诊断经过合理治疗能获得明显改善。
作者 陈大坤 李建国
机构地区 首都儿科研究所
出处 《中国实用儿科杂志》 CSCD 北大核心 2009年第2期98-101,共4页 Chinese Journal of Practical Pediatrics
关键词 遗传 肾小管疾病 hereditary renal tubular disease
分类号 R72 [医药卫生—儿科]
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参考文献15

  • 1Watanabe S, Fukumoto S, Chang H, et al. Association between activating mutations of calcium-sensing receptor and Bartter' s syndrome [J]. Lancet, 2002, 360(9334): 692-694.
  • 2Vargas-Poussou R, Huang C, Hulin P, et al. Functional characterization of a calcium sensing receptor mutation in severe autosomal dominant hypocaleemia with a Bartter-like syndrome [J]. J Am Soc Nephrol, 2002, 13(9) : 2259-2266.
  • 3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
  • 4Tago N. Kokubo Y, Inamoto N, et al. A high prevalence of Gitelman's syndrome mutations in Japanese [J]. Hypertens Res, 2004, 27(5): 327-331.
  • 5Ring T, Knoers N, Oh MS, et al. Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome [J]. Pediatr Nephrol, 2002, 17(8) : 612-616.
  • 6李鹏,黄建萍.小儿Dent病临床特征和基因突变分析[J].临床儿科杂志,2008,26(4):298-301. 被引量：10
  • 7Wilson FH, Disse-Nicod e me S, Choate KA, et al. Human hypertension caused by mutations in WNK kinases [J]. Science, 2001, 293( 5532 ) : 1107-1112.
  • 8Bruce LJ, Cope DL, Jones GK, et al. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1 ) gene [J]. J Clin Invest, 1997, 100(7) : 1693-1707.
  • 9Karet FE, Finberg KE, Nelson RD, et al. Mutations in the gene encoding B1 subunit of H^+-ATPase cause renal tubular acidosis with sensorineural deafness [J]. Nat Genet, 1999, 21 (1) : 84-90.
  • 10Smith AN, Skaug J. Choate KA, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD suhunit, cause recessive distal renal tubular acidnsis with preserved hearing [J]. Nat Genet, 2000, 26( 1 ) : 71-75.

二级参考文献26

  • 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
  • 2Mastroianni 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.
  • 3Pollak 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.
  • 4Simon 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.
  • 5Simon 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.
  • 6Zelikovie 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.
  • 7Jeck 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.
  • 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.
  • 9Maki 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.
  • 10Lin 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. Am J Kidney Dis, 2004, 43:304-312.

共引文献32

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中国实用儿科杂志
2009年 第2期

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