Type I Gaucher disease in children with and without enzyme therapy.

Author(s): Dweck A, Abrahamov A, Hadas-Halpern I, Bdolach-Avram T, Zimran A, Elstein D

Affiliation(s): Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.

Publication date & source: 2002-09, Pediatr Hematol Oncol., 19(6):389-97.

Publication type:

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.