期刊文献+

先天性肾病综合征研究进展 被引量:6

Progress in congenital nephrotic syndrome
原文传递
导出
摘要 先天性肾病综合征的发病率尽管不高,却是导致儿童终末期肾病的常见病因,该病的诊断与治疗甚为棘手.近年来,随着分子生物学等技术的快速发展,该病的病因、诊断和治疗等均取得了一定进展.该文详细阐述了先天性肾病综合征的最新分型和诊治方法. Congenital nephrotic syndrome, the common cause of end stage renal disease in chidren, is a rare kidney disorder. With the advanced molecular biology, much progress have been made in its etiology, diagnosis and treatment. This paper will mainly focus on its classification, diagnosis and therapy.
出处 《国际儿科学杂志》 2011年第3期245-247,共3页 International Journal of Pediatrics
关键词 先天性 肾病综合征 基因诊断 肾移植 Congenital nephrotic syndrome Gene diagnosis Kidney transplantation
  • 相关文献

参考文献20

  • 1Jalanko H. Congenital nephrotic syndrome. Pediatr Nephrol,2009,24 (11) :2121-2128.
  • 2Kastilla M,Lenkheri U, Manniko M,et al. Positionally cloned gene for a novel glmnerular protein-nephrin is mutated in congenital nephrotie syndrome. Mol Cell, 1998,1 (4) :572-578.
  • 3Patari-sampo A, [hahno P, Holthofer H. Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm. Ann Med ,2006,38 (7) :483-492.
  • 4Patrakka J, Kestila M,Wartiovaara J,et al . Congenital nephrotic syndrome( NPHSI ) :Features resulting from different mutations in Finnish patients. Kidney Int ,2000,58 ( 3 ) :972-980.
  • 5Boute N,Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podocin,is mutated in autosomal recessive teroid-resistant nephrotic syndrome. Nat Genet, 2000,24 ( 4 ) : 349-354.
  • 6Ratelade J, Arrondel C, Hamard G, et al. A routine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes. Hum Mol Genet,2010,19 (1) : 1-15.
  • 7王辉,张学,沈颖,敖杨,赵秀丽.Denys-Drash综合征及其致病基因突变鉴定二例报道[J].中华肾脏病杂志,2006,22(7):383-387. 被引量:11
  • 8Nso Roca AP, Pena Carrion A, Benito Gutierrez M, et al. Evolutive study of children with diffuse mesangial sclerosis. Pediatr Nephrol, 2009,24(5) :1013-1019.
  • 9Zenker M, Aigner T, Wendler O, et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinet eye abnormalities. Hum Mol Genet ,2004,13 (21) :2625-2632.
  • 10Lin WD, Chen CP, Wang DY, et al. Gene symbol: LMXI B. Disease: Nail-patella syndrome. Hum Genet ,2008,124 ( 3 ) :295-296.

二级参考文献17

  • 1Denys P,Malvaux P,Berghe H,et al.Association d'un syndrome anatomopathologique de pseudo-hermaphrodisme masculin,d' un tumeur de Wilms' d' unnephropathie parenchymarteuse et d'un mosaicisme XX/XY.Arch Fr Pediatr,1967,24:729-739.
  • 2Drash A,Sherman F,Harmann W,et al.A syndrome of pseudohermaphroditism,Wilms' tumour,hypertension and degenerative renal disease.J Paediatr,1970,76:585-593.
  • 3Eddy AA,Mauer SM.Pseudohermaphroditism,glomerulopathy,and Wilms' tumor (Drash syndrome):frequency in end-stage renal failure.J Pediatr,1985,106:584-587.
  • 4HGMD:WT1database.http://www.hgmd.cf.ac.uk/ac/gene.php? gene =WT1
  • 5Little M,Wells C.A clinical overview of WT1 gene mutations.Hum Mutat,1997,9:209-225.
  • 6Mueller RF.The Denys-Drash syndrome.J Med Genet,1994,31:471-477.
  • 7Breslow NE,Takashima JR,Ritchey ML,et al.Renal failure in the Denys-Drash and Wims' tumor-aniridia syndromes.Cancer Res,2000,60:4030-4032.
  • 8Haber DA,Sohn RL,Buckler A J,et al.Alternative splicing and genomic structure of the Wilms tumor gene WT1.Proc Natl Acad Sci USA,1991,88:9618-9622.
  • 9Little MH,Williamson KA,Mannens M,et al.Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.Hum Mol Genet,1993,2:259-264.
  • 10Holger S,Karin MK.A role for the Wilms' tumor protein WT1 in organ development.Physiology,2005,20:54-59.

共引文献10

同被引文献27

引证文献6

二级引证文献4

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部