Mutation analysis in Japanese patients with congenital and infantile nephritic syndrome
| Project/Area Number |
21591396
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Wakayama Medical University |
|---|
Principal Investigator |
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
NAKANISHI Kouichi 和歌山県立医科大学, 医学部, 講師 (50336880)
IIJIMA Kazumoto 神戸大学, 医学部, 教授 (00240854)
|
|---|
| Project Period (FY) |
2009 – 2011
|
| Project Status |
Completed (Fiscal Year 2011)
|
| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
|
|---|
| Keywords | ネフリン / ポドシン / WT1 / ラミニンβ2 / PLEC1 / 先天性ネフローゼ症候群 / 乳児ネフローゼ症候群 / マイクロサテライトマーカー |
|---|
| Research Abstract |
Mutations in each of the NPHS1, NPHS2, WT1, LAMB2, and PLEC1 genes have been implicated in nephrotic syndrome manifesting in the first year of life. The relative frequency of causative mutations in these genes in Japanese children with nephritic syndrome manifesting in the first year of life is unknown. Therefore, we analyzed all 5 of the genes in 96 patients from 96 families with nephrotic syndrome manifesting in the first year of life. We detected disease-causing mutations in 88. 9%(16 of 18) patients with congenital onset(0. 3 months) and 12. 8%(10 of 78) patients with infantile onset(4. 12 months) of nephrotic syndrome were explained by mutations. Infants with causative mutations in any of the 5 genes do not respond to steroid treatment ; therefore, unnecessary treatment attempts can be avoided.
|
Report
(4 results)
Research Products
(33 results)
-
-
-
-
-
-
-
[Journal Article] The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies2010
Author(s)
Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, Kaito H, Hashimura Y, Ninchoji T, Komatsu H, Kamei K, Miyashita R, Kugo M, Ohashi H, Yamazaki H, Mabe H, Otsubo A, Igarashi T, Matsuo M
-
Journal Title
J Clin Endocrinol Metab
Volume: 95
Related Report
-
-
-
-
-
-
-
[Journal Article] In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation2009
Author(s)
Nozu. K, Iijima. K, Kawai. K, Nozu. Y, Nishuda. A, Takeshima. Y, Fu. X. J, Hashimura. Y, Kaito. H, Nakanishi. K, Yoshikawa. N, Matsuo M
-
Journal Title
Hum Genet
Volume: 126
Pages: 533-538
Related Report
-
[Journal Article] Japanese study group of renal disease in children. Cyclosporine and steroid therapy in children with steroid-resistant nephrotic syndrome2009
Author(s)
Hamasaki Y, Yoshikawa N, Hattori S, Sasaki S, Iijima K, Nakanishi K, Matsuyama T, Ishikura K, Yata N, Kaneko T, Honda M
-
Journal Title
Pediatr Nephrol
Volume: 24
Pages: 2177-2185
Related Report
-
-
[Journal Article] Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome2009
Author(s)
Hashimura Y, Nozu K, Kanegane H, Miyawaki T, Hayakawa A, Yoshikawa N, Nakanishi K, Takemoto M, Iijima K, Matsuo M
-
Journal Title
Pediatr Nephrol
Volume: 24
Pages: 1181-1186
Related Report
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
