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筛查某家族性局灶节段硬化性肾小球肾炎家庭的NPHS2基因 被引量：3

NPHS2 screening for a family of focal and segmental glomerulosclerosis
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摘要 目的为某个有两个儿童患者死于局灶节段硬化性肾小球肾炎的家庭查找致病原因。方法取孕18周后的羊水进行染色体检查,同时提取夫妇静脉血DNA、死亡男童肾组织DNA及胎儿羊水DNA,进行NPHS2基因检测。结果胎儿染色体未见异常;孕妇NPHS2基因检测发现c.954C>T变异,此改变位于第8外显子,不引起氨基酸的改变,为一已知的多态核苷酸;丈夫NPHS2基因未见异常。结论 NPHS2基因不是该家系的致病基因。 Objective To identify causative mutation gene for one family of focal and segmental glomerulosclerosis（FSGS） with two dead children and perform karyotyping analysis for their fetus. Methods The genomic DNA from both peripheral blood of this couple and amniotic fluid of the fetus were isolated. DNA from the dead boy＇s kidney tissues fixed with formalin were also isolated. NPHS2 screening was performed for this DNAs. Results The fetus has normal karyotype; the wife has a c. 954C〉T mutation of NPHS2 and this is a SNP, The husband has no change in NPHS2 gene. ConcLusion NPHS2 is not the causitive mutation gene of this family.
作者 卢彦平 程静 衣京梅 袁慧军 李亚里
机构地区 解放军总医院妇产科 解放军总医院耳鼻咽喉研究所分子诊断中心 解放军总医院儿科
出处 《分子诊断与治疗杂志》 2011年第1期14-17,共4页 Journal of Molecular Diagnostics and Therapy
关键词 局灶节段性肾小球硬化 NPHS2 激素抵抗型肾病综合征 FSGS NPHS2 Steroid-resistant nephrotic syndrome
分类号 R692.3 [医药卫生—泌尿科学]
  • 相关文献

参考文献14

  • 1Kitiyakara C, Eggers P, Kopp J B. Twenty-one-year trend in ESRD due to focal segmental glomerulosclerosis in the United states[J]. Am J Kidney Dis, 2004(44): 815-825.
  • 2Conlon P J, Butterly D, Albers F, et al. Clinical and pathologic features of familial focal segmental glomerulosclerosis[J]. Am J Kidney Dis, 1995(26): 34-40.
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  • 4Boute N, Gribouval O, Roselli S, et al. NPHS2, encoding the glomerular protein podoein, is mutated in autosomal recessive steroid-resistant nephrotie syndrome[J]. Nat Genet, 2000(24): 349-354.
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  • 7余自华,丁洁,管娜,石岩,张敬京,黄建萍,姚勇,杨霁云.一个中国汉族人家族性激素耐药型肾病综合征家系NPHS2基因新突变[J].中华儿科杂志,2004,42(2):108-112. 被引量：25
  • 8周伟,陈楠,潘晓霞,陈晓农,任红,王朝辉,巫永睿,陆颖.局灶节段性肾小球硬化与NPHS2基因突变[J].肾脏病与透析肾移植杂志,2005,14(2):126-130. 被引量：10
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二级参考文献37

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共引文献31

同被引文献30

  • 1余自华,丁洁,黄建萍,姚勇,肖慧捷,张敬京,刘景城,杨霁云.散发性儿童激素耐药型肾病综合征NPHS2基因突变[J].中华肾脏病杂志,2004,20(6):413-417. 被引量：15
  • 2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
  • 3Schwaderer P,Kntippel T,Konrad M ,et al. Clinical course and NPHS2 a- nalysis in patients with late steroid - resistant nephrotic syndrome [ J ]. Pediatr Nephrol ,2008 ,23 ( 2 ) :251 - 256.
  • 4Jaffer AT, Ahmed WU, Raju DS, et al. Foothold of NPHS2 mutations in primary nephrotic syndrome[ J ]. J Postgrad Med,2011,57 (4) :314 - 320.
  • 5Santin S, Tazon - Vega B, Silva I,et al. Clinical value of NPHS2 analysis in early- and adult- onset steroid -resistant nephrotic syndrome [ J ]. Clin J Am Soc Nephrol,2011,6 ( 2 ) : 344 - 354.
  • 6Bur RG, Lichtenberger A, Karle SM, et al. Patients with mutations in NPHS2(podocin) do not respond to standard seroid treatment of ne- phrotic syndrome [ J ]. J Am Soc Nephrol, 2004,15 ( 3 ) :722 - 732.
  • 7Skalova S, Podhola M, Vondrak K, et al. Plasmapheresis - induced eli- nical improvement in a patient with steroid - resistant nephrotic syn- drome due to podocin(NPHS2) gene mutation[ J]. Acta Medica( Hra- dec Kralove) ,2010,53(3) :157 - 159.
  • 8Weber S,Gfibouval O,Esquivel EL,et al. NPHS2mutation analysis shows genetic heterogeneity of steroid - resistant nephrotic syndrome and low post - transplant recurrence [ J ]. K/dney 1nt,2004,66 (2) ,571 - 579.
  • 9Vasudevan A, Siji A, Raghavendra A ,et al. NPHS2 mutations in Indian children with sporadic early steroid resistant nephretic syndrome [ J ]. Indian Pediatr,2012,49 ( 3 ) :231 - 233.
  • 10Abid A, Khaliq S, Shahid S, et al. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan~ J]. Gene,2012,502(2) :133 - 137.

引证文献3

二级引证文献9

分子诊断与治疗杂志
2011年 第1期

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