| Project/Area Number |
18590920
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | National Research Institute for Child Health and Development |
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Principal Investigator |
IIJIMA Kazumoto National Research Institute for Child Health and Development, NCCHD, Dept. of Nephrology, Director (00240854)
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| Co-Investigator(Kenkyū-buntansha) |
TSUKAGUCHI Hiroyasu Univ. of Tokushima Graduate School, Clinical Biology and Medicine, Assistant Professor (60335792)
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| Project Period (FY) |
2006 – 2007
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| Project Status |
Completed (Fiscal Year 2007)
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| Budget Amount *help |
¥3,890,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥390,000)
Fiscal Year 2007: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2006: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Keywords | Nephrotic Syndrome / Familial / Genetics |
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| Research Abstract |
Steroid sensitive idiopathic nephrotic syndrome (SSN) is the most common nephrotic syndrome in children. In most cases, SSN occurs sporadically and is considered to be a multifactorial disorder. However, familial clustering SSN was sometimes observed. To better define the contribution of genetic factors, we retrospectively studied clinical features and genetic influences in a cohort of 14 non consanguineous, unrelated SSN families of Japanese origin. The average age of onset was 4.3 years old. The interval of the onset between the affected sib-pair was 2.9 years old, which are quite similar to the features of European SSN families cohort. Despite the considerable intra-familial concordance with respect to the age of onset, therapeutic responsiveness and subsequent relapse frequency varied somehow between the affected sibs within a given family, even between affected monozygotic twins. Most patients experienced several, non-frequent relapses after initial treatment and enterd a complete sustained remission until age of 15 years. Eight patients had a more prolonged clinical course as they became frequent-relapsers and steroid-dependent. Renal biopsy showed minor glomerular abnormalities in 8 patients. A half of the patients (46%) had allergic diseases. All the 28 patients maintained a normal renal function during the observation period. Our results indicate that this cohort represents a familial form of SSN mimicking a common sporadic counterpart and will constitutes a subgroup of minimal change nephrotic syndrome where the recessive genetic factors plays a substantial role in the pathogenesis, possibly interacting with some epigenetic or environmental factors.
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