Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase

J Pediatr. 2001 Dec;139(6):862-4. doi: 10.1067/mpd.2001.119445.

Abstract

We report resolution of ground-glass appearance in high-resolution computed tomography of chest in a 6-year-old girl who had Gaucher disease with pulmonary involvement. This radiographic abnormality, which developed during the course of enzyme replacement therapy at doses between 20 to 60 U/kg/2 weeks, resolved when the dose was increased to 100 U/kg/2 weeks. This case illustrates the importance of trial of escalating dosage in the face of failure of response at lower doses.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Dose-Response Relationship, Drug
  • Female
  • Gaucher Disease / complications*
  • Gaucher Disease / diagnostic imaging
  • Gaucher Disease / drug therapy*
  • Glucosylceramidase / administration & dosage*
  • Glucosylceramidase / therapeutic use
  • Humans
  • Lung Diseases / diagnostic imaging
  • Lung Diseases / drug therapy*
  • Lung Diseases / etiology*
  • Radiography
  • Treatment Failure

Substances

  • Glucosylceramidase
  • imiglucerase