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Authors
Advisor(s)
Abstract(s)
Background: Children with Gaucher disease type I (GD1) are usually treated with
enzyme replacement therapy (ERT) at a dose of 30-60U/Kg/2W. Recently, due to an
acute shortage supply of imiglucerase, a reduced dose or a reduced infusion frequency
was recommended.
Objective: To evaluate the effects of a reduced infusion frequency of imiglucerase over 15 months of follow-up.
Patients and Methods: Three patients (1M:2F) were treated with ERT since a median
age of 7 years (range 5-12). Only one had bone crisis and Erlenmeyer deformations.
Median duration of treatment before dose reduction was 3 years (range 1-8). ERT
resulted in total regression of symptoms, normalization of hematological parameters and
progressive improvement of chitotriosidase in all patients. In August 2009 infusion
schedule was changed from a media 45U/Kg every two weeks to every four weeks.
Results: All patients remained asymptomatic and with no major change on hematological parameters except for the patient with bone crisis who presented subnormal platelet count. All patients showed an upward trend in chitotriosidase values.
Comments: Although a longer follow-up is needed, is probable that even children
completely stabilized can probably not be kept on lower doses even though the
reduction of frequency of the infusions represent a lower social burden.
Description
Keywords
Doença de Gaucher Criança Caso Clínico HDE MTB
Citation
IN: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM); 2011, 30 Agosto a 2 Setembro. Genéve
Publisher
Unidade de Doenças Metabólicas, Área de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE