NATURAL HISTORY OF TYPE
I GAUCHER DISEASE IN 56 CHILDREN WITH MORE THAN 3 YEARS OF FOLLOW-UP
Dweck A, Abrahamov A,
Hadas-Halpern A, Zimran A, Elstein D
Gaucher Clinic, Shaare
Zedek Medical Center, Jerusalem, Israel
Objective: To describe 56 children
with type I Gaucher disease who presented at <16 years to our
referral clinic (23 untreated and 33 treated with enzyme replacement
therapy, ERT) and monitored for >3 years.
Methods: All children were
evaluated and monitored at 6 month intervals for growth indices,
hematological and biochemical markers, as well as abdominal ultrasound to
assess spleen and liver index volumes. Skeletal x-rays, echocardiography,
and lung function tests were taken at presentation and as indicated. ERT (60
units/kg body weight/month) was recommended to ameliorate signs such as
hepatosplenomegaly and / or growth retardation.Paired t-test was used to
compare the outcome in treated relative to untreated children.
Results: Most patients were not
anemic at presentation, but ERT significantly increased hemoglobin levels
among treated children; platelet counts were widely divergent and no trends
were ascertained. Among treated patients there was a significant reduction in
liver and spleen volumes. There was a significant increase in height
z-scores in treated children. No significant changes were noted in
untreated patients with reference to these parameters.
Conclusions: Young patients who
present with severe symptomatic disease benefit from early administration of
enzyme therapy. Massive splenomegaly and height retardation marked those
children who presented in early childhood and were eventually given
treatment relative to those who remained untreated. Relative to historical
controls, none of the children in either group required splenectomy, nor
developed lung involvement during the follow-up period of up to 9 years.
Many patients had been diagnosed due to family or large-scale screening,
and were only mildly affected; these children therefore remain untreated and
only require follow-up at regular intervals.