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先天性肾病综合征的分子遗传学研究新进展 被引量：4

Updates on the molecular genetics of congenital nephrotic syndrome
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摘要 先天性肾病综合征（congenital nephrotic syndrome）通常指生后3个月内发病的肾病综合征,临床表现符合大量蛋白尿、低白蛋白血症、严重水肿和高胆固醇血症的肾病综合征诊断标准.根据病因可为分原发性（遗传性）和继发性（非遗传性）.原发性（primary）因多个肾小球滤过屏障组成蛋白的编码基因或其他相关基因突变所致,继发性（secondary）多因宫内感染或母亲疾病等所致（表1）[1].
作者 张宏文 王芳 丁洁
机构地区 北京大学第一医院儿科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2011年第6期425-427,共3页 Chinese Journal of Pediatrics
关键词 先天性肾病综合征 分子遗传学 肾小球滤过屏障 大量蛋白尿 低白蛋白血症 高胆固醇血症 非遗传性 临床表现
分类号 R726.9 [医药卫生—儿科]
  • 相关文献

参考文献24

  • 1Jalanko H.Congenital nephrotic syndrome.Pediatr Nephrol,2009,24:2121-2128.
  • 2Caridi G,Trivelli A,Sanna-Cherchi S,et al.Familial forms of nephrotic syndrome.Pediatr Nephrol,2010,25:241-252.
  • 3Kestila M,Lenkkeri U,Mannikko M,et al.Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome.Molecular Cell,1998,1:575-582.
  • 4石岩,丁洁,刘景城,王华,卜定方.中国人先天性肾病综合征NPHS1基因突变[J].中华儿科杂志,2005,43(11):805-809. 被引量：27
  • 5Koziell A,Grech V,Hussain S,et al.Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotie syndrome advocate a functional inter-relationship in glomerular filtration.Hum Mol.Genet,2002,11:379-388.
  • 6Patrakka J,Kestila M,Wartiovaara J,et al.Congenital nephrotic syndrome(NPHS1):features resulting from different mutations in Finnish patients.Kidney Int,2000,58:972-980.
  • 7Caridi G,Perfumo F,Ghiggeri GM.NPHS2(Podocin)mutations in nephrotic syndrome.Clinical spectrum and fine mechanisms.Pediatr Res,2005,57:54R-61R.
  • 8Hinkes BG,Mucha B,Vlangos CN,et al.Nephrotie syndrome in the first year of life:two thirds of cases are caused by mutations in 4 genes(NPHS1,NPHS2,WT1,and LAMB2).Pediatrics,2007,119:e907-919.
  • 9Frishberg Y,Feinstein S,Rinat C,et al.The heart of children with steroid-resistant nephmtic syndrome:is it all podocin?J Am Soc Nephrol,2006,17:227-231.
  • 10Sonmez F,Mir S,Berdeli A,et al.Podoein mutations in a patient with congenital nephrotic syndrome and cardiac malformation.Pediatr Int,2008,50:828-830.

二级参考文献13

  • 1Caridi G, Bertelli R, Duea MD, et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol,2003,14 :1278-1286.
  • 2Schuhheiss M, Ruf RG, Mucha BE, et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.Pediatr Nephrol, 2004, 19: 1340-1348.
  • 3Sako M, Nakanishi K, Obana M, et al. Analysis of NPHS1,NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int, 2005, 67 : 1248-1255.
  • 4Gigante M, Greco P, Defazio V, et al. Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family. Prenat Diagn, 2005, 25:407-410.
  • 5Behcheva O, Martin P, Lenkkeri U, et al. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat, 2001, 17: 368-373.
  • 6Haws RM, Weinberg AG, Baum M. Spontaneous remission of congenital nephrotic syndrome: a case report and review of the literature. Pediatr Nephrol, 1992, 6 : 82-84.
  • 7Patrakka J, Kestila M, Wartiovaara J. Congenital nephrotic syndrome ( NPHS1 ) : features resulting from different mutations in Finnish patients. Kidney Int, 2000, 58: 972-980.
  • 8Holmberg C,Tryggvason K,Kestila M,et al.Congenital nephrotic syndrome.In:Avner ED,Harmon WE’Niaudet P,eds.Pediatric Nephrology.5th ed.Philadelphia:Lippincott Williams & Wilkins,2004.503-516.
  • 9Kestila M, Lenkkeri U, Mannikko M, et al. Positionally cloned gene for a novel glomerular protein-nephrin-is mutanted in congenital nephrotie syndrome. Mol Cell, 1998, 1: 575-582.
  • 10Koziell A, Grech V, Hussain S, et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomexular filtration. Hum Mol Genet, 2002, 11 : 379-388.

共引文献26

同被引文献33

引证文献4

二级引证文献9

中华儿科杂志
2011年 第6期

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