title: 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.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, ROC.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.forename: James Edmond
authors.initials: JE
authors.lastname: Wraith
mesh_terms: D015519:Bone Density; D005776:Gaucher Disease / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007231:Infant, Newborn; D008297:Male
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase