Journal of the Chinese Medical Association
Volume 69, Issue 5 , Pages 228-232, May 2006

Enzyme Replacement Therapy with Imiglucerase in a Taiwanese Child with Type 1 Gaucher Disease

  • Hsiang-Yu Lin

      Affiliations

    • Department of Pediatrics, Taipei, Taiwan, R.O.C.
    • ,
  • Shuan-Pei Lin

      Affiliations

    • Department of Pediatrics, Taipei, Taiwan, R.O.C.
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
    • Department of Mackay Medicine, Nursing and Management College, Taipei, Taiwan, R.O.C.
    • Department of Clinical Pathology, Taipei Institute of Pathology, Taipei, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr. Shuan-Pei Lin, Department of Pediatrics, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan, R.O.C.
    • ,
  • Chih-Kuang Chuang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
    • Medical College, Fu-Jen Catholic University, Taipei, Taiwan, R.O.C.
    • ,
  • James Edmond Wraith

      Affiliations

    • Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Manchester, United Kingdom

Received 26 July 2005; accepted 20 December 2005.

Article Outline

The treatment of type 1 Gaucher disease has dramatically improved with the development of enzyme replacement therapy (ERT). To date, however, imiglucerase treatment of this disease in Taiwanese pediatric patients has not been reported. A Taiwanese child with type 1 Gaucher disease was regularly treated with imiglucerase beginning October 1998. This 12-year 10-month-old boy had undergone splenectomy when he was 4 years old. He received intravenous imiglucerase 60 U/kg every 2 weeks for 78 months. No signs of pubertal development were documented at the commencement of ERT. There were no serious adverse effects. The patient had significant improvement in skeletal deformity, a dramatic decrease in liver size, markedly increased linear growth, alleviation of bone pain and bone crises, correction of anemia, and improved bone mineral density. ERT with imiglucerase improved the quality of life in this child with type 1 Gaucher disease.

Key Words:  enzyme replacement therapy , imiglucerase , pediatric type 1 Gaucher disease

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PII: S1726-4901(09)70224-2

doi:10.1016/S1726-4901(09)70224-2

Journal of the Chinese Medical Association
Volume 69, Issue 5 , Pages 228-232, May 2006

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