Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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Research Abstract |
Chronic kidney disease(CKD) is clinically heterogeneous groups of diseases at a higher risk of potentially progressing to the end stage renal failure. The CKD is becoming a global health problem since it is indeed highly prevalent at one in eight adult individuals. The tubule-interstitial injuries significantly contribute to the pathogenesis of CKD as a primary initiating factor and/or a secondary exacerbating changes resulting from the glomerular insults. However, earlier tubule-interstitial injuries are often under-recognized because the patients barely manifest overt proteinuria and renal dysfunction. To improve the treatment for CKD, there is a need for elucidation of new disease biomarkers and genetic risk factors underlying tubule-interstitial diseases. This study aimed to identify the disease genes underling a large dominant family with tubule-interstitial nephritis. A combined approach of linkage analysis and next generation sequencing revealed that two novel single nucleotide variants may explain the susceptibility for interstitial nephritis.
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