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Mutation analysis in Japanese patients with congenital and infantile nephritic syndrome

Research Project

Project/Area Number 21591396
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionWakayama Medical University

Principal Investigator

YOSHIKAWA Norishige  和歌山県立医科大学, 医学部, 教授 (10158412)

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)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (33 results)

All 2011 2010 2009 Other

All Journal Article (21 results) (of which Peer Reviewed: 9 results) Presentation (4 results) Book (7 results) Remarks (1 results)

  • [Journal Article] The relationship between arginine vasopressin levels and hyponatremia following a percutaneous renal biopsy in children receiving hypotonic or isotonic intravenous fluids2011

    • Author(s)
      Kanda K, Nozu K, Kaito H, Iijima K, Nakanishi K, Yoshikawa N, Ninchoji T, Hashimura Y, Matsuo M, Moritz ML
    • Journal Title

      Pediatr Nephrol

      Volume: 26 Pages: 99-104

    • Related Report
      2011 Final Research Report
  • [Journal Article] Japanese pediatric IgA nephropathy treatment study group. Long-term results of a randomized controlled trial in childhood IgA nephropathy2011

    • Author(s)
      Kamei K, Nakanishi K, Ito S, Saito M, Sako M, Ishikura K, Hataya H, Honda M, Iijima K, Yoshikawa N
    • Journal Title

      Clin J Am Soc Nephrol

      Volume: 6 Pages: 1301-1307

    • Related Report
      2011 Final Research Report
  • [Journal Article] Recurrent EIARF and PRES with Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation2011

    • Author(s)
      Shima Y, Nozu K, Nozu Y, Togawa H, Kaito H, Matsuo M, Iijima K, Nakanishi K, Yoshikawa N
    • Journal Title

      Pediatrics

      Volume: 127

    • Related Report
      2011 Final Research Report
  • [Journal Article] Treatment strategies for Henoch-Schonlein purpura nephritis by histological and clinical severity2011

    • Author(s)
      Ninchoji T, Yoshikawa N
    • Journal Title

      Pediatr Nephrol

      Volume: 26 Issue: 4 Pages: 563-569

    • DOI

      10.1007/s00467-010-1741-5

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Long-term results of a randomized controlled trial in childhood IgA nephropathy2011

    • Author(s)
      Kamei K, Yoshikawa N
    • Journal Title

      Clin J Am Soc Nephrol

      Volume: 6 Issue: 6 Pages: 1301-1307

    • DOI

      10.2215/cjn.08630910

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Recurrent EIARF and PRES with Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation2011

    • Author(s)
      Shima Y, Yoshikawa N
    • Journal Title

      Pediatrics

      Volume: 127 Issue: 6 Pages: 1621-1625

    • DOI

      10.1542/peds.2010-2592

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [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
      2011 Final Research Report
  • [Journal Article] Japanese study group of renal disease in children. Treatment with microemulsified cyclosporine in children with frequently relapsing nephrotic syndrome2010

    • Author(s)
      Ishikura K, Yoshikawa N, Hattori S, Sasaki S, Iijima K, Nakanishi K, Matsuyama T, Yata N, Ando T, Honda M
    • Journal Title

      Nephrol Dial Transplant

      Volume: 25 Pages: 3956-3962

    • Related Report
      2011 Final Research Report
  • [Journal Article] Combination therapy with steroids and mizoribine in juvenile SLE: a randomized controlled trial2010

    • Author(s)
      Tanaka Y, Yoshikawa N
    • Journal Title

      Pediatr Nephrol

      Volume: 25 Pages: 877-882

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Disappearance of glomerular IgA deposits in childhood IgA nephropathy showing diffuse mesangial proliferation after two years of combination/prednisolone therapy2010

    • Author(s)
      Shima Y, Yoshikawa N
    • Journal Title

      Nephrol Dial Transplant

      Volume: 26 Pages: 163-9

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Treatment with microemulsified cyclosporine in children with frequently relapsing nephrotic syndrome2010

    • Author(s)
      Ishikura K, Yoshikawa N
    • Journal Title

      Nephrol Dial Transplant

      Volume: 25 Pages: 3956-3962

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Membranous nephropathy associated with thyroid-peroxidase antigen2009

    • Author(s)
      Shima Y, Nakanishi K, Togawa H, Obana M, Sako M, Miyawaki M, Nozu K, Iijima K, Yoshikawa N
    • Journal Title

      Pediatr Nephrol

      Volume: 24 Pages: 605-608

    • Related Report
      2011 Final Research Report
  • [Journal Article] Increased chymase-positive mast cells in children with crescentic glomerulonephritis2009

    • Author(s)
      Togawa H, Nakanishi K, Shima Y, Obana M, Sako M, Nozu K, Tanaka R, Iijima K, Yoshikawa N
    • Journal Title

      Pediatr Nephrol

      Volume: 24 Pages: 1071-1075

    • Related Report
      2011 Final Research 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
      2011 Final Research 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
      2011 Final Research Report
  • [Journal Article] Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome2009

    • Author(s)
      Nozu K, Krol RP, Nakanishi K, Yoshikawa N, Nozu Y, Ohtsuka Y, Iijima K, Matsuo M
    • Journal Title

      Pediatr Nephrol

      Volume: 24 Pages: 1773-1774

    • Related Report
      2011 Final Research 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
      2011 Final Research Report
  • [Journal Article] A deep intronic mutation in the SLC12A3 gene leads to gitelman syndrome2009

    • Author(s)
      Nozu K, Iijima K, Nozu Y, Ikegami E, Imai T, Fu XJ, Kaito H, Nakanishi K, Yoshikawa N, Matsuo M
    • Journal Title

      Pediatr Res

      Volume: 66 Pages: 590-593

    • Related Report
      2011 Final Research Report
  • [Journal Article] Efficacy and safety of lisinopril for mild childhood IgA nephropathy : a pilot study2009

    • Author(s)
      Nakanishi K, Yoshikawa N
    • Journal Title

      Pediatr Nephrol 24

      Pages: 845-849

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Increased chymase-positive mast cells in children with crescentic glomerulonephritis2009

    • Author(s)
      Togawa H, Nakanishi K, Yoshikawa N
    • Journal Title

      Pediatr Nephrol 24

      Pages: 1071-1075

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Cyclosporine and steroid therapy in children with steroid-resistant nephrotic syndrome2009

    • Author(s)
      Hamasaki Y, Yoshikawa N
    • Journal Title

      Pediatr Nephrol 24

      Pages: 2177-2185

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] IgA nephropathy2011

    • Author(s)
      Yoshikawa N
    • Organizer
      The 1^<st> oriental congress of pediatrics
    • Place of Presentation
      Shanghai, China
    • Year and Date
      2011-10-28
    • Related Report
      2011 Annual Research Report
  • [Presentation] IgA Nephropathy2010

    • Author(s)
      Yoshikawa N
    • Organizer
      15^<th> International Pediatric Nephrology Association
    • Place of Presentation
      New York, USA
    • Year and Date
      2010-08-30
    • Related Report
      2010 Annual Research Report
  • [Presentation] Summary and future directions, The nephcure foundation symposium : Focus on focal2010

    • Author(s)
      Yoshikawa N
    • Organizer
      15th International Pediatric Nephrology Association
    • Place of Presentation
      New York, USA
    • Related Report
      2011 Final Research Report
  • [Presentation] EBM確立のための臨床研究2009

    • Author(s)
      吉川徳茂
    • Organizer
      第39回日本腎臓病学会西部学術大会
    • Place of Presentation
      県立文化会館(和歌山県)
    • Year and Date
      2009-10-16
    • Related Report
      2009 Annual Research Report
  • [Book] Alport症候群と家族性良性血尿の異同(50の典型例で学ぶ小児の腎泌尿器疾患)2011

    • Author(s)
      中西浩一, 吉川徳茂
    • Publisher
      診断と治療社
    • Related Report
      2011 Final Research Report
  • [Book] Drash症候群, 50の典型例で学ぶ小児の腎泌尿器疾患2011

    • Author(s)
      中西浩一, 吉川徳茂
    • Publisher
      診断と治療社
    • Related Report
      2011 Final Research Report
  • [Book] 小児頻回再発型・ステロイド依存症ネフローゼ症候群に対する治療戦略は?(EBM小児疾患の治療)2011

    • Author(s)
      吉川徳茂
    • Publisher
      中外医学社
    • Related Report
      2011 Final Research Report
  • [Book] 小児科学改訂第10版2011

    • Author(s)
      吉川徳茂
    • Total Pages
      1141
    • Publisher
      腎・泌尿器・生殖器疾患
    • Related Report
      2011 Annual Research Report
  • [Book] 小児科臨床ピクシス22小児のネフローゼと腎炎2010

    • Author(s)
      島友子, 吉川徳茂
    • Publisher
      中山書店
    • Related Report
      2010 Annual Research Report
  • [Book] ネフローゼ症候群(小児科疾患アルゴリズム)2009

    • Author(s)
      中西浩一, 吉川徳茂
    • Publisher
      中山書店
    • Related Report
      2011 Final Research Report
  • [Book] Pediatric Nephrology, 6th ed.2009

    • Author(s)
      Avner ED, Harmon WE, Niaudet P, Yoshikawa N
    • Total Pages
      1990
    • Publisher
      Springer
    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://www.wakayama-med.ac.jp/med/shonika/index.html

    • Related Report
      2011 Final Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

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