Doença de Gaucher: uma desordem subdiagnosticada

• Autor(a) principal: Ferreira, Camila Simões [UNIFESP]
• Data de Publicação: 2011
• Outros Autores: Silva, Luis Roberto Da, Araújo, Maria Bernadete J., Tannús, Roberta Kazan, Aoqui, William Luiz
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0103-05822011000100019; http://repositorio.unifesp.br/handle/11600/6338
• topic: Gaucher disease; metabolism, inborn errors; anemia; splenomegaly; differential diagnosis; doença de Gaucher; erros inatos do metabolismo; anemia; esplenomegalia; diagnóstico diferencial

OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype. CASE DESCRIPTION: Patient at the age of three years and six months with a history of anemia and splenomegaly for the past two years. Physical examination showed: moderate paleness, systolic murmur in mitral and tricuspid areas without irradiation, significant splenomegaly and mild hepatomegaly. Hemogram presented normocytic and normochromic anemia and mild thrombocytopenia. To investigate bone marrow-related anemias, a myelogram was indicated and the results showed medullary infiltration by Gaucher cells. The diagnosis of the disease was confirmed by assay of acid beta-glucosidase. Genetic counseling was requested and imiglucerase therapy was started. COMMENTS: This was the only documented case of Gaucher disease diagnosis in the General Hospital of Uberlândia Federal University, between 1999 and 2008, which assists a population of approximately 3 million people in 86 municipalities, indicating underdiagnosis of this inborn metabolic error. Thus, it is important to consider Gaucher disease as a differential diagnosis on patients with chronic anemia and splenomegaly during childhood.