Resumo

LOZANO BERNAL, Jorge Enrique. Gaucher's disease: Casuistic from Tolima. Acta Med Colomb [online]. 2006, vol.31, n.4, pp.416-421. ISSN 0120-2448.

The lysosomal storage disorders are monogenic inborn errors of metabolism with heterogeneous pathophysiology and clinical manifestations. Gaucher's disease (GD) is the most common lysosomal storage disorder and is a multi-system condition that results from autosomal recessive mutations in the gene encoding glucocerebroside. More than 300 discrete mutant alleles have been identified. A deficiency of glucocerebroside (GBA) activity leads to the accumulation of its major substrate, glucocerebroside, within the lysosomes of macrophages, resulting in characteristic storage cells, commonly known as Gaucher cells, in a variety of tissues but mainly in the liver, spleen, bone marrow, bones, lungs and central nervous system. Patients with non-neuronopathic (type 1) GD may suffer from hepatomegaly, splenomegaly, thrombocytopenia, tendency to bleed, anemia, hypermetabolism, skeletal pathologies; growth retardation, pulmonary disease and poor quality of life. Enzyme replacement therapy (ERT) with immiglucerase reverses or ameliorates many of the manifestations of type 1 Gaucher´s disease. Four GD type I patients, three children and one adult, two male and two female, ages 4-35 y, with moderate to life-threatening manifestations are the Tolima casuistic and are reported in this study. All patients had splenomegaly, anemia and mild to moderate thrombocytopenia and transaminases elevated. Three patients had been treated with ERT and showed hematological, biochemical and clinical improvements.

Palavras-chave : lisosomal storage disorders; Gaucher disease; glucocerebrosidase; enzyme replacement therapy.

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