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Dent病研究进展 被引量：4

Progress on Dent＇ s disease
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摘要 小儿蛋白尿的原因很多，多数是由于。肾小球疾病引起，故往往忽略了。肾小管疾病致蛋白尿的出现。Dent病为一种遗传性。肾小管疾病，主要表现为低相对分子原量蛋白尿、高钙尿症、肾脏钙化、肾石症及进行性肾衰竭。目前主要发现CLCN5基因和OCRL1基因突变可导致Dent病的发生。Dent病的治疗目前仍以对症支持治疗为主，主要是降低尿钙排泄，减轻肾脏钙化以及延缓肾功能不全的发生。 There are many causes of proteinuria in children. Because proteinuria is mainly caused by glomerular diseases, renal tubulopathies are often ignored. Dent＇s disease is an hereditary renal tubulopathy characterized by low-molecular-weigh proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Dent＇s disease is mainly caused by mutations in CLCN5 and OCRL1 genes. Current treatments of the disease are still mainly symptomatic and supportive therapy, including reducing urinary calcium excretion, lightening nephrocalcinosis, and delaying the occurrence of renal insufficiency.
作者 刘妍(综述) 张碧丽(审校)
机构地区 天津市儿童医院肾脏内科
出处 《国际儿科学杂志》 2012年第1期61-64,共4页 International Journal of Pediatrics
关键词 Dent病 儿童 基因突变 蛋白尿 Dent＇s disease Child Genes mutations Proteinuria
分类号 R734.2 [医药卫生—肿瘤]
  • 相关文献

参考文献20

  • 1Claverie-Martln F, Ramos-Trujillo E, Garcia-Nieto V. Dent's disease: clinical features and molecular basis. Pediatr Nephrol,2011,26 (5) : 693 -704.
  • 2朱碧溱,李鹏,黄建萍.以小分子蛋白尿为主要表现的Dent病六例临床及基因分析[J].中华儿科杂志,2010,48(5):329-333. 被引量：27
  • 3Sekine T, Nozu K, Iyengar R, et al. OCRL1 mutations in patients with Dent disease phenotype in Japan. Pediatr Nephrol, 2007,22 (7) :975-980.
  • 4Tosetto E, Ghiggeri GM,Emma F, et al. Phenotypic and genetic het- erogeneity in Dent's disease-the results of an Italian collaborative study. Nephrol Dial Transplant, 2006,21 ( 9 ) :2452-2463.
  • 5Cho HY, Lee BH, Choi HJ, et al. Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol, 2008,23 ( 2 ) : 243- 249.
  • 6Grand T, Mordasini D, L'Hoste S, et al. Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing. Kidney Int, 2009,76 ( 9 ) : 999 -1005.
  • 7Wu F, Reed AA, Williams SE, et al. Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. Nephron Physiol, 2009,112(4) :p53-62.
  • 8Plans V,Rickheit G, Jentsch TJ. Physiological roles of CLC Cl ^- / H ^+ exchangers in renal proximal tubules. PflUgers Arch,2009,458 ( 1 ) :23-37.
  • 9Novarino G, Weinert S, Rickheit G, et al. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science,2010,328 (5984) :1398-1401.
  • 10Guggino SE. Can we generate new hypotheses about Dent's disease from gene analysis of a mouse model? Exp Physiol, 2009,94 ( 2 ) : pp191-196.

二级参考文献19

  • 1Ludwig M,Utsch B,Monnens LA.Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.Nephrol Dial Transplant,2006,21:2708-2717.
  • 2Li P,Huang JP.Phenotype and genotype of Dent's disease in three Chinese boys.Nephrology (Carlton),2009,14 (2):139-142.
  • 3Hoopes RR Jr,Raja KM,Koich A,et al.Evidence for genetic heterogeneity in Dent's disease.Kidney Int,2004,65:1615-1620.
  • 4Miller SA,Dykes DD,Polesky HF.A simple salting out procedure for extractingDNA from human nucleated cells.Nucleic Acids Res,1988,16:1215.
  • 5Lloyd SE,Pearce SH,Günther W,et al.Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due tomutations of the renal chloride channel (CLCN5).J Clin Invest,1997,99:967-974.
  • 6Igarashi T,Inatomi J,Ohara T,et al.Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.Kidney int,2000,58:520-527.
  • 7Cho HY,Lee BH,Choi HJ,et al.Renal manifestations of Dent disease and Lowe syndrome.Pediatr Nephrol,2008,23:243-249.
  • 8Sekine T,Nozu K,Lyengar R,et al.OCRL1 mutations in patients with Dent disease phenotype in Japan.Pediatr Nephrol,2007,22:975-980.
  • 9Ramos-Trujillo E,Gouzález-Acosta H,Flores C,et al.A missense mutation in the chloride/proton CIC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11.Identification of seven new CLCN5 mutations in patients with Dent's disease.J Hum Genet,2007,52:255-261.
  • 10Igarashi T,Gunther W,Sekine T,et al.Functional characterization of renal chloride channel,CLCN5,mutations associated with Dent's Japan disease.Kidney Int,1998,54:1850-1856.

共引文献26

同被引文献16

引证文献4

二级引证文献7

国际儿科学杂志
2012年 第1期

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