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Type I Gaucher disease in children with and without enzyme therapy
Altoon Dweck1, Ayala Abrahamov, Irith Hadas-Halpern
1Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.
Insights
Enzyme replacement therapy improved hemoglobin and height in children with Gaucher disease, with significant reductions in liver and spleen size. Many mildly affected patients identified through screening did not require treatment.
Area of Science:
- Pediatric Endocrinology
- Lysosomal Storage Disorders
- Gaucher Disease Management
Background:
- Non-neuronopathic Gaucher disease (GD3) is a rare genetic disorder affecting children.
- Key clinical manifestations include massive splenomegaly and growth retardation.
- Understanding the long-term course and treatment efficacy in pediatric GD3 is crucial.
Purpose of the Study:
- To describe the clinical course of non-neuronopathic Gaucher disease in children.
- To evaluate the impact of enzyme replacement therapy (ERT) on disease progression.
- To identify factors influencing treatment requirements and outcomes in pediatric GD3.
Main Methods:
- Retrospective analysis of 56 children with non-neuronopathic Gaucher disease.
- Patients presented before 16 years of age and were followed for 3-9 years.
- Data collected included clinical parameters, splenomegaly, height, and treatment status.
Main Results:
- ERT significantly increased hemoglobin levels and height z-scores in treated children.
- Significant reductions in liver and spleen volumes were observed with ERT.
- Platelet counts showed divergent trends; splenectomy and lung involvement were avoided.
Conclusions:
- Enzyme replacement therapy is effective in managing key clinical features of pediatric non-neuronopathic Gaucher disease.
- ERT leads to improved hematological parameters, growth, and organ volume reduction.
- Mildly affected patients, often identified via screening, may not require immediate treatment.
Abstract:
This retrospective study describes the course of 56 children with non-neuronopathic Gaucher disease who presented at <16 years and were followed at 6- to 12-month intervals for 3-9 years. Massive splenomegaly and height retardation marked those who required treatment. Enzyme replacement significantly increased hemoglobin levels; platelet counts were divergent at presentation and follow-up, regardless of therapy. Among treated patients there was a significant reduction in liver and spleen index volumes, and a significant increase in height z-scores. None of the children required splenectomy or developed lung involvement. Many patients diagnosed due to large-scale screening were very mildly affected and remain untreated.