2007 Fiscal Year Final Research Report Summary
Analysis of familial steroid-sensitive nephrotic syndrome
| 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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| 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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[Journal Article] Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness2008
Author(s)
Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matuo M
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Journal Title
J Med Genet 45
Pages: 182-186
Description
「研究成果報告書概要(和文)」より
Peer Reviewed
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[Journal Article] Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness2008
Author(s)
Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T,Nakanishi K, Yoshikawa N, Iijima K, Matsuo M.
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Journal Title
J Med Genet 45
Pages: 182-186
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Association of cumulative cyclosporine dose with its irreversible nephrotoxicity in Japanese patients with pediatric-onset autoimmune diseases2007
Author(s)
Nakamura T, Nozu K, Iijima K, Yoshikawa N, Moriya Y, Yamamori M, Kako A, Matsuo M, Sakurai A, Okamura K, Sakaeda T
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Journal Title
Biol Pharm Bull 30
Pages: 2371-2375
Description
「研究成果報告書概要(和文)」より
Peer Reviewed
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[Journal Article] Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR2007
Author(s)
Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Simizu N, Iijima K, Matsuo M
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Journal Title
Pediatr Res 62
Pages: 364-369
Description
「研究成果報告書概要(和文)」より
Peer Reviewed
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[Journal Article] Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome2007
Author(s)
Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, Matsuo M
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Journal Title
Pediatr Res 61
Pages: 502-506
Description
「研究成果報告書概要(和文)」より
Peer Reviewed
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[Journal Article] OCRL1 mutations in patients with Dent disease phenotype in Japan2007
Author(s)
Sekine T, Nozu K, Iyengar R, Fu XJ, Matsuo M, Tanaka R, Iijima K, Matsui E, Harita Y, Inatomi J, Igarashi T
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Journal Title
Pediatr Nephrol 22
Pages: 975-980
Description
「研究成果報告書概要(和文)」より
Peer Reviewed
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[Journal Article] Association of cumulative cyclosporine dose with its irreversible nephrotoxicity in Japanese patients with pediatric-onset autoimmune diseases2007
Author(s)
Nakamura T, Nozu K., Iijima K, Yoshikawa N, Moriya Y, Yamamori M,Kako A, Matsuo M, Sakurai A, Okamura N, Isktkawa T, Okumura K,Sakaeda T.
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Journal Title
Biol Pharm Bull 30
Pages: 2371-2375
Description
「研究成果報告書概要(欧文)」より
-
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[Journal Article] Molecular analysis of patients with type III Bartter syndrome : picking up large heterozygous deletions with semiquantitative PCR2007
Author(s)
Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Shimizu N, Iijima K, Matsuo M.
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Journal Title
Pediatr Res 62
Pages: 364-369
Description
「研究成果報告書概要(欧文)」より
-
-
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[Journal Article] Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome2007
Author(s)
Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Summaga R, Ishida A, Iijima K, Matsuo M.
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Journal Title
Pediatr Res 61
Pages: 502-506
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] OCRL1 mutations in patients with Dent disease phenotype in Japan2007
Author(s)
Sekine T, Nozu K, Iyengar R, Fu XJ, Matsuo M, Tanaka R, Iijima K, Matsui E, Harita Y, Inatomi J, Igarashi T.
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Journal Title
Pediatr Nephrol 22
Pages: 975-980
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome
Author(s)
Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N
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Journal Title
Nephrol Dial Transplant (印刷中)
Description
「研究成果報告書概要(和文)」より
Peer Reviewed
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[Journal Article] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome
Author(s)
Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N.
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Journal Title
Nephrol Dial Transplant (in press)
Description
「研究成果報告書概要(欧文)」より
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[Presentation] A 2-year, Prospective, Randomized, Multicenter Trial of Moderate-dose Cyclosporine in Children with Frequently Relapsing Nephrotic Syndrome2007
Author(s)
Ishikura K., Ikeda M., Hattori S., Yoshikawa N., Sasaki S., Iijima K., Nakanishi K., Yata N., Honda M., for Japanese Study Group of Renal Disase in Children
Organizer
The 14th Congress of the International Pediatric Nephrology Association
Place of Presentation
Budapest
Year and Date
2007-09-02
Description
「研究成果報告書概要(和文)」より
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