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激素耐药型肾病综合征与NPHS1基因 被引量：2

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摘要 原发性肾病综合征（primary nephrotic syndrome，PNS）是儿童常见的肾小球疾病。80％～90％PNS患儿对激素敏感，预后良好；10％-20％的PNS患儿对激素耐药，
作者 王道静 余自华
机构地区 南京军区福州总医院儿科
出处 《中华儿科杂志》 CAS CSCD 北大核心 2011年第11期862-865,共4页 Chinese Journal of Pediatrics
基金 基金项目：福建省自然科学基金（2006J0119） 南京军区医学科学技术研究“十一五”计划课题（06MA148,06MA151） 2008年度南京军区医学科技创新课题（08MA102）
关键词 激素耐药型肾病综合征 S1基因 NPH 原发性肾病综合征 肾小球疾病 PNS 患儿
分类号 R726.9 [医药卫生—儿科]
  • 相关文献

参考文献24

  • 1Ruf RG, Lichtenberger A, Karle SM, et al. Patients withmutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol, 2004, 15 : 722-732.
  • 2Weber S, Gribouval O, Esquivel EL, et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int, 2004, 66: 571-579.
  • 3Benoit G, Machuca E, Antignac C. Hereditary nephrotie syndrome : a systematic approach for genetic testing and a review of associated podocyte gene mutations. Pediatr Nephrol, 2010, 25: 1621-1632.
  • 4Philippe 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.
  • 5Santin S, Garcla-Maset R, Ruiz P, et al. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. Kidney Int, 2009, 76: 1268-1276.
  • 6Kestila 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.
  • 7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
  • 8Lenkkeri 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 Genet, 1999, 64: 51-61.
  • 9Heeringa SF, Vlangos CN, Chernin G, et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant, 2008, 23: 3527-3533.
  • 10Patrakka J, Ruotsalainen V, Reponen P, et al. Recurrence of nephrotic syndrome in kidney grafts of patients with congenitalnephrotie syndrome of the finnish type: role of nephrin. Transplantation, 2002, 73: 394-403.

二级参考文献28

  • 1潘晓霞,陈楠,周伟,王朝晖,张文,王伟铭,陈晓农,巫永睿,陆颖.原发性局灶节段性肾小球硬化患者CD2AP基因突变的研究[J].中华肾脏病杂志,2006,22(1):13-18. 被引量：24
  • 2Ruotsalalnen V, Ljungbcrg P, Wartiovaara J, et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes [ J ]. Proc Natl Acad Sci U S A,1999,96(14) :7962 -7967.
  • 3Shono A,Tsukaguchi H, Yaoita E, et al. Podocin participates in the assembly of tight junctions between foot processes in nephrotic podocytes [ J ]. J Am Soc Nephrol,2007,18 (9) : 2525 - 2533.
  • 4Pelkmans L, Burli T,Zerial M, et al. Caveolin -stabilized membrane domains as muhifunctional transport and sorting devices in endocytic membrane traffic [ J]. Cell,2004,118 (6) :767 - 780.
  • 5Rodewald R, Karnovsky M. Porous substructure of the glomerular slit diaphgram in the rat and mouse [ J ]. J Cell Biol, 1974,60 (2) :423 -433.
  • 6Tryggvason K. Unraveling the mechanisms of glomerular ultrafihration: Nephrin, a key component of the slit diaphragm [ J ]. J Am Soc Nephrol, 1999,10 ( 11 ) :2240 - 2245.
  • 7Kestiia M, Lenkkeri U, Mannikko M, et al. Positionally cloned gene for a novel glomerular protein - Nephrin - is mutated in congenital nephrotic syndrome[ J ] . Mol CEU,1998,1(4) :575 -582.
  • 8Kuusniemi AM, Qvist E, Sun Y, et al. Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type ( NPHS1 ) [ J ]. Transplantation, 2007,83 (10) :1316 - 1323.
  • 9Heeringa SF, Vlangos CN, Chernin G, et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotie syndrome [ J ]. Nephrol Dial Traasplant,2008,23 ( 11 ) :3527 - 3533.
  • 10Toubiana J, Schlageter MH, Aoun B,et al. Therapy -resistant anaemia in congenital nephrotic syndrome of the Finnish type implication of EPO ,transferrin and transcobalamin losses [ J ]. Nephrol Dial Transplant ,2009,24(4 ) : 1338 - 1340.

共引文献35

同被引文献32

  • 1余自华,丁洁.肾病综合征激素耐药与NPHS2基因[J].中华儿科杂志,2005,43(2):154-156. 被引量：11
  • 2Benoit G,Machuca E,Antignac C.Hereditary nephrotic syndrome:Asystematic approach for genetic testing and a review of associated podo-cyte gene mutations[J].Pediatr Nephrol,2010,25(9):1621-1632.
  • 3Philippe A,Nevo F,Esquivel EL,et al.Nephrin mutations can causechildhood-onset steroid-resistant nephrotic syndrome[J].J Am SocNephrol,2008,19(10):1871-1878.
  • 4Boute N,Gribouval O,Roselli S,et al.NPHS2,encoding the glomerularprotein podocin,is mutated in autosomal recessive steroid-resistant ne-phrotic syndrome[J].Nat Genet,2000,24(4):349-354.
  • 5Lwik MM,Groenen PJ,Pronk I,et al.Focal segmental glomerulosclero-sis in a patient homozygous for a CD2AP mutation[J].Kidney Int,2007,72(10):1198-1203.
  • 6Ruf RG,Schultheiss M,Lichtenberger A,et al.Prevalence of WT1 muta-tions in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome[J].Kidney Int,2004,66(2):564-570.
  • 7Ruf RG,Lichtenberger A,Karle SM,et al.Patients with mutations inNPHS2(podocin)do not respond to standard steroid treatment of ne-phrotic syndrome[J].J Am Soc Nephrol,2004,15(3):722-732.
  • 8Büscher AK,Kranz B,Büscher R,et al.Immunosuppression and renaloutcome in congenital and pediatric steroid-resistant nephrotic syn-drome[J].Clin J Am Soc Nephrol,2010,5(11):2075-2084.
  • 9Ehrich JH,Geerlings C,Zivicnjak M,et al.Steroid-resistant idiopathicchildhood nephrosis:Overdiagnosed and undertreated[J].Nephrol DialTransplant,2007,22(8):2183-2193.
  • 10Machuca E,Benoit G,Antignac C.Genetics of nephrotic syndrome:Con-necting molecular genetics to podocyte physiology[J].Hum Mol Genet,2009,18(R2):R185-R194.

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二级引证文献14

中华儿科杂志
2011年 第11期

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