Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease.

Abstract

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.

• Authors: Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, James Edmond Wraith
• Journal: Journal of the Chinese Medical Association : JCMA (J Chin Med Assoc) Vol. 69 Issue 5 Pg. 228-32 (May 2006) ISSN: 1726-4901 [Print] Netherlands
• PMID: 16835986 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glucosylceramidase
• imiglucerase

Topics

• Bone Density
• Gaucher Disease (drug therapy)
• Glucosylceramidase (therapeutic use)
• Humans
• Infant, Newborn
• Male