Resumo

GONZALEZ JIMENEZ, Emilio; AGUILAR CORDERO, María José; ALVAREZ FERRE, Judit  e  GARCIA LOPEZ, Pedro Antonio. Gaucher's disease and its clinical management in the pediatric patient. Rev Clin Med Fam [online]. 2010, vol.3, n.2, pp.114-120. ISSN 2386-8201.

Gaucher disease is an inherited lysosomal disease whose origin lies in a defect at the level of the gene encoding the enzyme acid betaglucosidasa, which deficiency affects the accumulation of glucocerebroside in lysosomes of macrophages, causing the clinical manifestations of the table In children, the most common form is type 2 or neuropathic variant characterized by the presence of visceromegalies, hematological disorders and structural bone changes. Often presents a poor prognosis, especially when they were available splenectomy and bone marrow transplantation as the only therapies. It represents the first disease in which enzyme replacement therapy has been used to demonstrate safety and efficacy over the last decade, enabling improved patients' quality of life and decreasing their morbidity and mortality. The aim of this study was to show an updated review about the pathophysiology, diagnosis and clinical management - treatment of this complex process.

Palavras-chave : Gaucher Disease; Child.

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