Evaluation of enzyme replacement therapy for Fabry disease

2004 Fiscal Year Final Research Report Summary

• Project/Area Number: 15590864
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Kidney internal medicine
• Research Institution: Nippon Medical School
• Principal Investigator: UTSUMI Kouichi Nippon Medical School, Second Department of Internal Medicine, Staff Fellow, 医学部, 助手 (60291150)
• Co-Investigator(Kenkyū-buntansha): IINO Yasuhiko Nippon Medical School, Second Department of Internal Medicine, Professor, 医学部, 教授 (60134706)
• Project Period (FY): 2003 – 2004
• Keywords: Fabry disease / Enzyme replacement therapy / α-Galactosidase / vitro nectine receptor / Maltese cross / Globotriaosylceramide

Research Abstract

Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity of the enzyme α-galacotsidase A. Accumulation of glycosphingolipids, especially globotriaosylceramide, leads to renal damage in Fabry disease. In patients with Fabry disease, the urinary sediment contains excreted glycosphingolipids. With enzyme replacement therapy for Fabry disease now currently available, we examined whether the urinary sediment could be used to noninvasively monitor effectiveness of enzyme replacement therapy. Four male patients with hemizygous classical Fabry disease received recombinant α-galactsidase A biweekly, and urinary sediments were assessed at 3-month intervals. The morphologic and immunohistochemical changes in urinary sediment at 6 and 18 months suggested that accumulations of glycosphingolipids in renal tissues were cleared by enzyme replacement. Examination of urinary sediments could serve as noninvasive monitoring of the effect of therapy in patients with Fabry disease.

Research Products

• [Journal Article] Churg-Strauss症候群 (2005)
  • Author(s): 上田佳恵 他
  • Journal Title: 日本医科大学医学会雑誌 1;1 Pages: 21-25
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Churg-Strauss Syndrome : Necessity points in the diagnosis and treatment. (2005)
  • Author(s): Ueda K., Fujita S., Mizukoshi G., Takada D., Kamano C., Kaneko T., Utsumi K., Katsumata T., Katsura K., Iino Y., Katayama Y.
  • Journal Title: Nippon Ika Daigaku Zasshi (1) Pages: 21-25
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Crossed Cerebellar Diaschisis in Patients With Cortical Infarction (2004)
  • Author(s): Komaba Y et al.
  • Journal Title: Stroke 35:47 Pages: 472-476
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Fabry病の兄弟例 (2004)
  • Author(s): 義澤雄介 他
  • Journal Title: 臨床皮膚科 58-;11 Pages: 936-938
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Crossed cerebellar diaschisis in patients with cortical infarction : logistic regression analysis to control for confounding effects. (2004)
  • Author(s): Komaba Y., Mishina M., Utsumi K., Katayama Y., Kobayashi S., Mori O.
  • Journal Title: Stroke. 35(2) Pages: 472-476
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] A sibling of Fabry disease. (2004)
  • Author(s): Aizawa Y, Shimoda T, Tanaka N, Utsumi K, Kawana S.
  • Journal Title: Rinsyo Hifukagaku 58(11) Pages: 936-938
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] acute posterior leukoencephalopathy in a patient with nephritic syndrome (2003)
  • Author(s): Utsumi K et al.
  • Journal Title: Clin Exp Nephrol 7:3 Pages: 62-66
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Acute posterior Eukoencephalopathy in a patient with nephritic syndrome. (2003)
  • Author(s): Utsumi k., Amemiya S., Iizuka M., Iino Y., Katayama Y.
  • Journal Title: Clin Exp Nephrol. 7(1) Pages: 63-66
  • Description: 「研究成果報告書概要(欧文)」より
• [Journal Article] Recurrent strokes in a young adult patient with Fabry disease.
  • Author(s): Tanaka N, Utsumi K et al.
  • Journal Title: EJON (in press)
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Factors influencing outcome in Guillain-Barre Syndrome : comparison of plasma adsorption against other treatments
  • Author(s): Seta T et al.
  • Journal Title: CLINEU (in press)
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Effective of selective LDL-apheresis in a Fabry patient with recurrent strokes.
  • Author(s): Utsumi K et al.
  • Journal Title: EJON (in press)
  • Description: 「研究成果報告書概要(和文)」より
• [Journal Article] Enzyme replacement therapy for Fabry disease : Morphologic and Histochemical changes in the urinary sediments.
  • Author(s): Utsumi K et al.
  • Journal Title: CCA (in press)
  • Description: 「研究成果報告書概要(和文)」より
• [Book] Recurrent strokes in a young adult patient with Fabry disease.
  • Author(s): Noriko Tanaka, Kouichi Utsumi, Takehiro Seta, Kazuhiro Usuda, Yuichi Komaba, Toshiya Katsumata, Ken-ichiro Katsura, Shizuki Sakamoto, Yasuo Katayama
  • Publisher: EJON(in press)
  • Description: 「研究成果報告書概要(欧文)」より
• [Book] Factors influencing outcome in Guillain-Barre Syndrome : comparison of plasma adsorption against other treatments.
  • Author(s): Seta T., Nagayama H., Katsura K., Hamamoto M., Araki T., Yokochi M., Utsumi k., Katayama Y
  • Publisher: CLINEU(in press)
  • Description: 「研究成果報告書概要(欧文)」より
• [Book] Effective of selective LDL-apheresis in a Fabry patient with recurrent strokes.
  • Author(s): Utsumi K, Seta T, Katsumata T, Komaba Y, Igarashi H, Katsura K, Iino Y, Katayama Y
  • Publisher: EJON(in press)
  • Description: 「研究成果報告書概要(欧文)」より
• [Book] Enzyme replacement therapy for Fabry disease : Morphologic and Histochemical changes in the urinary sediments Enzyme replacement therapy for Fabry disease : Morphologic and Histochemical changes n the urinary sediments
  • Author(s): Utsumi K, Mitsuhasi F, Asahi K, Sakurazawa M, Arii K, Komaba Y, Katsumata T, Katsura K, Kase R, Katayama Y
  • Publisher: CCA(in press)
  • Description: 「研究成果報告書概要(欧文)」より