Genetic analysis of glomerular podocyte molecules in children with nephrotic syndrome

肾病综合征患儿肾小球足细胞分子的遗传分析

• 批准号: 18591199
• 负责人: YOSHIKAWA Norishige
• 金额: $ 2.47万
• 依托单位: Wakayama Medical University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2006
• 资助国家: 日本
• 起止时间: 2006 至 2007
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18591199/
• 关键词: nephritic syndrome; glomerular capillary wall; glomerular podocyte; slit diaahraam; gene

Podocin is an integral membrane protein encodedby NPHS2, which is mapped to 1q25-31 and exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroid-resistant nephrotic syndrome (SRNS). It has been demonstrated that sporadic SRNS and steroid-sensitive nephrotic syndrome. We isolated genomic DNA from 26 Japanese children with steroid-resistant nephrotic syndrome and 45 Japanese children with steroid-sensitive nephrotic syndrome. We analyzed all eight exons of NPHS2 using the polymerase chain reaction and direct sequencing. Four silent variants (102G>A, 288C>T, 954T>C, 1038A>G) were identified in some of the patients and normal controls, indicating that the silent variants are polymorphisms. There was nosignificant difference in the genotypic and allelic frequencies of these 4 polymorphisms between the patients and normal controls and between the steroid-resistant and steroid-sensitive patients. In conclusion, NPHS2 gene mutations are not a major cause of nephrotic syndrome in Japanese children.

Podocin是一种由NPHS2编码的完整膜蛋白，定位于1q25-31位点，仅在肾小球足细胞中表达。NPHS2突变是常染色体隐性家族性类固醇抵抗性肾病综合征（SRNS）的原因。已证实散发的SRNS和类固醇敏感性肾病综合征。我们从26名日本类固醇抵抗性肾病综合征儿童和45名日本类固醇敏感性肾病综合征儿童中分离出基因组DNA。我们使用聚合酶链反应和直接测序分析了NPHS2的所有8个外显子。在部分患者和正常对照中发现4个沉默变异体（102G>A、288C>T、954T>C、1038A>G），提示沉默变异体具有多态性。这4种多态性的基因型和等位基因频率在患者与正常对照、激素耐药患者与激素敏感患者之间均无显著差异。总之，NPHS2基因突变不是日本儿童肾病综合征的主要原因。

项目成果

Effective and safe treatment with cyclosporine in nephritic children:a prospective,randomized,multicenter trial.

环孢素治疗肾病儿童有效且安全：一项前瞻性、随机、多中心试验。

• 发表时间: 2008
• 期刊: Kidney Int 73
• 作者: Nozu;K.;Inagaki;T.;Fu;XZ.;Nozu;Y.;Kaito;H.;Kanda;K.;Sekine;T.;Igarashi;I.;Nakanishi;K.;Yoshikawa;N.;Iijima;K.;Matsuo;M;Nozu K;Yata N;Yoshikawa N;Ishikura N
• 通讯作者: Ishikura N

Effective and safe treatment with cyclosporine in nephritic children:a prospective,randomized,multicenter trial

环孢素治疗儿童肾病有效且安全：一项前瞻性、随机、多中心试验

• 期刊: Kidney Int (In Press)
• 作者: CattranDC;Alexopoulos;E.;Heeling;P.;Hoyer;PF.;Johnston;A.;Meyrier;A.;Ponticelli C;Saito T;Choukroun;G.;Nachman;P.;Praga;M.;Yoshikawa;N;Kamioka I;Nozu K;Fujita T;CattranDC;Fujita T;Nozu K;Yoshikawa N;Obana M;Kaito H;Yata N;Yoshikawa N;Ishikura K
• 通讯作者: Ishikura K

Kidney Disorders in Children and Adolescents A Global Perspective of Clinical Pracice

儿童和青少年肾脏疾病临床实践的全球视角

• 发表时间: 2006
• 作者: Ishikura;K.;Ikeda;M.;Hattori;S.;Yoshikawa;N.;Sasaki;S.;Iijima;K.;Nakanishi;K.;Yata;N.;Honda;M;Yoshikawa N
• 通讯作者: Yoshikawa N

Steroid treatment for severe childhood IgA nephropathy: A randomized, controlled trial

• DOI: 10.2215/cjn.01120905
• 发表时间: 2006-05-01
• 期刊: CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
• 影响因子: 9.8
• 作者: Yoshikawa, Norishige;Honda, Masataka;Ito, Hiroshi
• 通讯作者: Ito, Hiroshi

The effect of aldosterone blockade in patients with Alport syndrome

• DOI: 10.1007/s00467-006-0270-8
• 发表时间: 2006-12-01
• 期刊: PEDIATRIC NEPHROLOGY
• 影响因子: 3
• 作者: Kaito, Hiroshi;Nozu, Kandai;Matsuo, Masafumi
• 通讯作者: Matsuo, Masafumi