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DOI: 10.14684/intertech.13.2014.172-176 The Gaucher disease (DG) is an inborn error of metabolism, a rare pathology, despite being the most frequent lipidosis of lysosomal diseases group. It has autosomal recessive genetic inheritance, caused by a deficiency of the enzyme glucocerebrosidase, leading to accumulation of glucocerebrosides in the macrophages, mainly in the spleen, liver and bone marrow. The clinical manifestations depend on the degree of compromise of the enzyme and can be manifested in three forms: type I, II and III. This research mainly aims at making an epidemiological survey and the formation a profile of patients with DG in the Federal District. Data was collected in the Gerencia do Componente Especializado da Assistencia Farmaceutica/Secretaria de Saude – GCEAF/SES, considering that in Brazil, there are few studies on concrete statistical data of DG in each region. The result of this study might assist the development new strategies for a more individualized and effective treatment. Index Terms -metabolismo; enzima; glicocerebrosideos; levantamento epidemiologico. |
