Type I Gaucher disease in children with and without enzyme therapy

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Altoon Dweck1, Ayala Abrahamov, Irith Hadas-Halpern

  • 1Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.

Pediatric Hematology and Oncology
|August 21, 2002
PubMed

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.

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