Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase.
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.
Lee
S Y
SY
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, SAR, Hong Kong.
Mak
A W
AW
Huen
K F
KF
Lam
S T
ST
Chow
C B
CB
D002648:Child; D004305:Dose-Response Relationship, Drug; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage* / Q000627:therapeutic use; D006801:Humans; D008171:Lung Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000209:etiology*; D011859:Radiography; D017211:Treatment Failure
D005962:Glucosylceramidase; C090568:imiglucerase