Mutation analysis in Japanese patients with congenital and infantile nephritic syndrome

2011 Fiscal Year Final Research Report

• Project/Area Number: 21591396
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Wakayama 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
• 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

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.

Research Products

• [Journal Article] The relationship between arginine vasopressin levels and hyponatremia following a percutaneous renal biopsy in children receiving hypotonic or isotonic intravenous fluids (2011)
  • 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
• [Journal Article] Japanese pediatric IgA nephropathy treatment study group. Long-term results of a randomized controlled trial in childhood IgA nephropathy (2011)
  • 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
• [Journal Article] Recurrent EIARF and PRES with Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation (2011)
  • 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 Pages: e1621-1625
• [Journal Article] The Pharmacological Characteristics of Molecular-Based Inherited Salt-Losing Tubulopathies (2010)
  • 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 Pages: E511-518
• [Journal Article] Japanese study group of renal disease in children. Treatment with microemulsified cyclosporine in children with frequently relapsing nephrotic syndrome (2010)
  • 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
• [Journal Article] Membranous nephropathy associated with thyroid-peroxidase antigen (2009)
  • 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
• [Journal Article] Increased chymase-positive mast cells in children with crescentic glomerulonephritis (2009)
  • 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
• [Journal Article] In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation (2009)
  • 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
• [Journal Article] Japanese study group of renal disease in children. Cyclosporine and steroid therapy in children with steroid-resistant nephrotic syndrome (2009)
  • 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
• [Journal Article] Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome (2009)
  • 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
• [Journal Article] Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (2009)
  • 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
• [Journal Article] A deep intronic mutation in the SLC12A3 gene leads to gitelman syndrome (2009)
  • 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
• [Presentation] Summary and future directions, The nephcure foundation symposium : Focus on focal (2010)
  • Author(s): Yoshikawa N
  • Organizer: 15th International Pediatric Nephrology Association
  • Place of Presentation: New York, USA
  • Year and Date: 20100000
• [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
  • Total Pages: 46-49
  • Publisher: 診断と治療社
• [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
  • Total Pages: 110-114
  • Publisher: 診断と治療社
• [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
  • Total Pages: 459-464
  • Publisher: 中外医学社
• [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
  • Total Pages: 68-69
  • Publisher: 中山書店
• [Remarks]
  • URL: http://www.wakayama-med.ac.jp/med/shonika/index.html