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

Hsiang-Yu Lin1, Shuan-Pei Lin, Chih-Kuang Chuang

  • 1Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, ROC.

Journal of the Chinese Medical Association : JCMA
|July 14, 2006
PubMed

Insights

Enzyme replacement therapy (ERT) with imiglucerase significantly improved a Taiwanese child's type 1 Gaucher disease. The treatment led to substantial health benefits and enhanced quality of life without serious adverse effects.

Area of Science:

  • Biochemistry
  • Pediatric Medicine
  • Genetics

Background:

  • Type 1 Gaucher disease management has advanced with enzyme replacement therapy (ERT).
  • Limited data exists on imiglucerase treatment for Taiwanese pediatric patients with Gaucher disease.

Observation:

  • A 12-year-old Taiwanese boy with type 1 Gaucher disease, post-splenectomy, received intravenous imiglucerase (60 U/kg every 2 weeks) for 78 months.
  • Treatment commenced before pubertal development, with no serious adverse effects reported.

Findings:

  • Significant improvements observed in skeletal deformity, liver size reduction, and linear growth.
  • Alleviation of bone pain and crises, anemia correction, and enhanced bone mineral density were noted.
  • Imiglucerase ERT demonstrated considerable efficacy in managing pediatric type 1 Gaucher disease.

Implications:

  • Imiglucerase ERT is a viable and effective treatment for type 1 Gaucher disease in Taiwanese children.
  • This case highlights the positive impact of ERT on long-term health outcomes and quality of life.
  • Further research into ERT for pediatric Gaucher disease in diverse populations is warranted.

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