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人类的先天性肾病综合征芬兰型致病基因研究进展 被引量：4

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摘要 人类的NPHS1是先天性。肾病综合征芬兰型（congenital nephrotic syndrome，Finnish type，CNF）致病基因代码。1998年，Kestila等利用定位克隆技术，发现NPHS1是CNF致病基因，位于常染色体19q12-q13．1，编码nephrin。nephrin属于细胞黏附分子免疫球蛋白家族中的一员，位于肾小球滤过屏障裂隙膜（slitdiaphragm，SD）上，
作者 李国民 徐虹
机构地区 复旦大学附属儿科医院肾脏风湿科
出处 《中华肾脏病杂志》 CAS CSCD 北大核心 2013年第3期237-240,共4页 Chinese Journal of Nephrology
关键词 先天性肾病综合征 致病基因 芬兰 人类 NEPHRIN 肾小球滤过屏障 细胞黏附分子 免疫球蛋白
分类号 R692 [医药卫生—泌尿科学]
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参考文献35

  • 1Kestila M, Lenkkeri U, Mannikko M, et al. Positionally clonedgene for a novel glomerular protein一nephrin is mutated incongenital nephrotic syndrome. Mol Cell,1998, 1: 575-582.
  • 2Hinkes BG, Mucha B, Vlangos CN, et al. Nephrotic syndromein the first year of life: two thirds of cases are caused bymutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).Pediatrics, 2007, 119: e907-e919.
  • 3Philippe A, Nevo F, Esquivel EL, et al. Nephrin mutations cancause childhood - onset steroid - resistant nephrotic syndrome. JAm Soc Nephrol, 2008,19: 1871-1878.
  • 4Santfn S, Garcia - Maset R, Ruiz P, et al. Nephrin mutationscause childhood - and adult - onset focal segmentalglomerulosclerosis. Kidney Int, 2009, 76: 1268-1276.
  • 5Mbarek IB, Abroug S, Omezzine A, et al. Novel mutations insteroid - resistant nephrotic syndrome diagnosed in Tunisianchildren. Pediatr Nephrol, 2011, 26: 241-249.
  • 6http://www.genecards.org/cgi - bin/carddisp.pl.gene=NPHS 1 &search =NPHS1.
  • 7Astrom E, Rinta - Valkama J, Gylling M, et al. Nephrin inhuman lymphoid tissues. Cell Mol Life Sci, 2006, 63: 498-504.
  • 8Wagner N, Morrison H, Pagnotta S, et al. The podocyte proteinnephrin is required for cardiac vessel formation. Hum MolGenet, 2011,20: 2182-2194.
  • 9Li M, Armelloni S, Ikehata M, Corbelli A, et al. Nephrinexpression in adult rodent central nervous system and itsinteraction with glutamate receptors. J Pathol, 2011, 225: 118-128.
  • 10Huh W, Kim DJ, Kim MK, et al. Expression of nephrin inacquired human glomerular disease. Nephrol Dial Transplant,2002,17: 478-484.

二级参考文献29

  • 1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
  • 2Ruf RG,Lichtenberger A,Karle SM,et al.Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.J Am Soc Nephrol,2004,15:722-732.
  • 3Weber S, Gribouval O, Esquivel EL, et al. NPHS2mutation analysis shows genetic heterogeneity of steroidresistant nephrotic syndrome and low post-transplant recurrence.Kidney Int,2004,66:571-579.
  • 4Benoit G,Machuca E,Antignac C.Hereditary nephrotic syndrome:a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol,2010,25:1621-1632.
  • 5Philippe A,Nevo F,Esquivel EL,et al.Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.J Am Soc Nephrol,2008,19:1871-1878.
  • 6Santín S,García-Maset R,Ruíz P,et al.Nephrin mutations cause childhood- and adult-onset focal segmental glomenlosclerosis.Kidney Int,2009,76:1268-1276.
  • 7Caridi G,Trivelli A,Sarna-Cherchi S,et al.Familial forms of nephrotic syndrome.Pediatr Nephrol,2010,25:241-252.
  • 8Kestila M,Lenkkeri U,Mannikko M,et al.Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome.Mol Cell,1998,1:575-582.
  • 9Lenkkeri U,Mannikko M,McCready P,et al.Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations.Am J Hum G enet,1999,64:51-61.
  • 10Ogino S,Gulley ML,den Dunnen JT,et al.Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.J Mol Diagn,2007,9:1-6.

共引文献33

同被引文献14

引证文献4

二级引证文献17

中华肾脏病杂志
2013年 第3期

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