| Project/Area Number |
15K09261
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | Kobe University |
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Principal Investigator |
Morisada Naoya 神戸大学, 医学研究科, 客員准教授 (00389446)
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| Co-Investigator(Kenkyū-buntansha) |
庄野 朱美 関西医科大学, 医学部, 研究員 (10535066)
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| Co-Investigator(Renkei-kenkyūsha) |
Iijima Kazumoto 神戸大学, 大学院医学研究科, 教授 (00240854)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | CAKUT / 小児CKD / 嚢胞性腎疾患 / ネフロン癆 / 次世代シークエンサー / 先天性腎尿路異常 / 繊毛病 / 遺伝カウンセリング / NPHP-RC |
|---|
| Outline of Final Research Achievements |
Congenital anomalies of the kidney and urinary tract (CAKUT) is an important disease as a cause of chronic kidney disease (CKD), but its detailed cause is still unknown. The purpose of this study was to clarify the genetic background of CAKUT in Japan, and to reveal new causative genes of CAKUT and perform gene functional analysis using iPS cells. We analyzed 531 families with CAKUT, nephronophthisis (NPHP) or polycystic kidneys (PKD), which are clinically similar disorder with CAKUT, in the whole research period using next generation sequencing. We identified causative genes in 185 families. The diagnoses in some patients were changed from CAKUT to NPHP or PKD after genetic analysis, so genetic diagnosis was extremely useful. However, no new candidate gene could be identified in this study, and CAKUT related iPS cells could not be established.
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