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Enzyme replacement therapy in a child with Gaucher disease
Yasser Masood1, Agha Shabbir Ali
1Department of Pediatric Medicine, Children Hospital and Institute of Child Health, Lahore.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|November 28, 2006
Summary
Enzyme replacement therapy using a recombinant enzyme significantly improved Gaucher disease symptoms in a 3-year-old child. The treatment led to better hemoglobin, neutrophil counts, platelets, and overall physical growth.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Gaucher disease is a rare genetic disorder.
- Enzyme replacement therapy (ERT) is a treatment option.
Observation:
- A 3-year-old child diagnosed with Gaucher disease was treated with recombinant enzyme therapy.
- The child received regular ERT.
Findings:
- Significant improvements were observed in hemoglobin levels.
- Absolute neutrophil count and platelet counts showed marked improvement.
- The child experienced enhanced physical growth.
Implications:
- Recombinant enzyme therapy is effective for pediatric Gaucher disease.
- ERT can positively impact hematological parameters and growth in Gaucher patients.
- This case highlights the benefits of timely ERT in managing Gaucher disease.
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