Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/1041
Título: Effects of a Shortage of Imiglucerase on Three Patients with Type I Gaucher Disease
Autor: Ferreira, AC
Sequeira, S
Palavras-chave: Doença de Gaucher
Caso Clínico
Data: 2011
Editora: Unidade de Doenças Metabólicas, Área de Pediatria Médica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE
Citação: IN: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM); 2011, 30 Agosto a 2 Setembro. Genéve
Resumo: 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.
URI: http://hdl.handle.net/10400.17/1041
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