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International Journal of Hematology

, Volume 73, Issue 3, pp 356–362 | Cite as

Improvement of Splenomegaly and Pancytopenia by Enzyme Replacement Therapy Against Type 1 Gaucher Disease: A Report of Sibling Cases

  • Kazuya Tsuboi
  • Shinsuke Iida
  • Miyuki Kato
  • Yoshihito Hayami
  • Ichiro Hanamura
  • Kazuhisa Miura
  • Shinsuke Harada
  • Hirokazu Komatsu
  • Shogo Banno
  • Atsushi Wakita
  • Masakazu Nitta
  • Ryuzo Ueda
Case Report
  • 56 Downloads

Abstract

Gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical responses to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 Gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. Enzyme replacement therapy has improved the treatment of type 1 Gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Consideration by physicians must be given to Gaucher disease, and appropriate treatments must be given when confronted with cryptogenic pancytopenia or hepatosplenomegaly.

Key words

Type 1 Gaucher disease Enzyme replacement therapy Alglucerase Imiglucerase 

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Copyright information

© The Japanese Society of Hematology 2001

Authors and Affiliations

  • Kazuya Tsuboi
    • 1
    • 2
  • Shinsuke Iida
    • 1
  • Miyuki Kato
    • 1
  • Yoshihito Hayami
    • 1
  • Ichiro Hanamura
    • 1
  • Kazuhisa Miura
    • 1
  • Shinsuke Harada
    • 1
  • Hirokazu Komatsu
    • 1
  • Shogo Banno
    • 1
  • Atsushi Wakita
    • 1
  • Masakazu Nitta
    • 2
  • Ryuzo Ueda
    • 1
  1. 1.Second Department of Internal MedicineNagoya City University Medical SchoolJapan
  2. 2.Second Department of Internal MedicineAichi Medical UniversityJapan

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