Type I Gaucher disease in children with and without enzyme therapy.
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.
Dweck
Altoon
A
Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.
Abrahamov
Ayala
A
Hadas-Halpern
Irith
I
Bdolach-Avram
Tali
T
Zimran
Ari
A
Elstein
Deborah
D
D001827:Body Height; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D013156:Splenectomy
D006454:Hemoglobins; C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase