Type I Gaucher disease in children with and without enzyme therapy

Pediatr Hematol Oncol. 2002 Sep;19(6):389-97. doi: 10.1080/08880010290097143.

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.

MeSH terms

  • Body Height
  • Body Weight
  • Child
  • Child, Preschool
  • Female
  • Gaucher Disease / blood
  • Gaucher Disease / drug therapy*
  • Glucosylceramidase / therapeutic use*
  • Hemoglobins / analysis
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Retrospective Studies
  • Splenectomy

Substances

  • Hemoglobins
  • alglucerase
  • Glucosylceramidase
  • imiglucerase