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儿童Dent病研究进展 被引量：9

Latest research progress in childhood Dent disease
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摘要 Dent病（Dent disease）是一种X连锁隐性遗传性疾病,于1964年由Dent等首次报道,临床特征主要是低分子蛋白尿（LWMP）、高钙尿、肾钙质沉着以及进行性肾衰竭,而其中30%～80%患者在30～50岁时发展至肾病终末阶段。近年来,随着基因诊断技术的成熟,越来越多Dent病已被报道。现将Dent病的研究进展综述如下。
作者 张宏博 黄建萍
机构地区 北京军区总医院附属八一儿童医院儿童肾脏和免疫科
出处 《中国实用儿科杂志》 CSCD 北大核心 2015年第1期77-80,共4页 Chinese Journal of Practical Pediatrics
基金 2012年国家自然科学基金资助项目(NO.80270790)
关键词 Dent病 蛋白尿 电压门控性氯离子通道蛋白5 发病机制 临床特征 低分子 眼-脑-肾综合征相关基因1 Dent disease proteinuria CLCN5 pathogenesis clinical feature low-molecular weight OCRL1
分类号 R72 [医药卫生—儿科]
  • 相关文献

参考文献27

  • 1Tosetto E, Ghiggeri GM, Emma F, et al. Phenotypic and genetic heterogeneity in Dent's disease-the results of an Italian collab- orative study [J]. Nephrol Dial Transplant, 2006, 21 (9) : 2452-2463.
  • 2Addis M, Meloni C, Tosetto E, et aL An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes[J]. Eur J Hum Genet,2013,21 (6) : 687-690.
  • 3Malakauskas SM, Quan H, Fields TA, et al. Aminoaciduria and altered renal expression of lumina] amino acid transporters in mice lacking novel gene Colleetrin [J]. Am J Physiol Renal Physiol, 2007,292( 2 ) : F533-544.
  • 4Tosetto E, Addis M, Caridi G, et al. Locus heterogeneity of Dent' s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations [J]. Pediatr Nephrol, 2009, 24 (10) : 1967-1973.
  • 5Seheel O, Zdebik AA, Lourdel S, et al. Voltage-dependent eleetrogenic chloride/proton exchange by endosomal CLC pro- teins [J ]. Nature, 2005,436(7049) : 424-427.
  • 6Novarino G, Weinert S, Rickheit G, et al. Endosomal chlo- ride-proton exchange rather than chloride eonduettanee is cru- cial for renal endoeytosis [J]. Science, 2010, 328 (5984) : 1398-1401.
  • 7Devuyst O, Jouret F, Auzanneau C, et al. Chloride channels and endoeytosis: new insights from Dent's disease and CLC-5 knockout mice[J]. Nephron Physiol,2005,99(3) : 69-67.
  • 8Stphane L,Teddy G, Johanna B, et al. CLC-5 mutations associ- ated with Dent's disease: a major role of the dimer interface [ J]. Eur J Physiol, 2012,463 (2) : 247-256.
  • 9Silva IV, Cebotaru V, Wang H, et al. The CLC-5 knock out mouse model of Dent's disease has renal hyperealeiuria and in- creased bone turnover [J]. J Bone Miner Res, 2003, 18 (4) : 615-623.
  • 10Cui S, Guerriero C J, Szalinski CM, et al. OCRL1 function in re- nal epithelial membrane traffic [J]. Am J Physiol Renal Physi- ol,2010,298(2) :335-345.

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32

引证文献9

二级引证文献14

中国实用儿科杂志
2015年 第1期

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