RESUMO
Patients with Gaucher type 1 (GD1) throughout Argentina were enrolled in the Argentine bone project to evaluate bone disease and its determinants. We focused on presence and predictors of bone lesions (BL) and their relationship to therapeutic goals (TG) with timing and dose of enzyme replacement therapy (ERT). A total of 124 patients on ERT were enrolled in a multi-center study. All six TG were achieved by 82% of patients: 70.1% for bone pain and 91.1% for bone crisis. However, despite the fact that bone TGs were achieved, residual bone disease was present in 108 patients on ERT (87%) at time 0. 16% of patients showed new irreversible BL (bone infarcts and avascular osteonecrosis) despite ERT, suggesting that they appeared during ERT or were not detected at the moment of diagnosis. We observed 5 prognostic factors that predicted a higher probability of being free of bone disease: optimal ERT compliance; early diagnosis; timely initiation of therapy; ERT initiation dose ≥45 UI/kg/EOW; and the absence of history of splenectomy. Skeletal involvement was classified into 4 major phenotypic groups according to BL: group 1 (12.9%) without BL; group 2 (28.2%) with reversible BL; group 3 (41.9%) with reversible BL and irreversible chronic BL; and group 4 (16.9%) with acute irreversible BL. Our study identifies prognostic factors for achieving best therapeutic outcomes, introduces new risk stratification for patients and suggests the need for a redefinition of bone TG. Am. J. Hematol. 91:E448-E453, 2016. © 2016 Wiley Periodicals, Inc.
Assuntos
Doenças Ósseas/diagnóstico , Doença de Gaucher/complicações , Adolescente , Adulto , Idoso , Argentina , Doenças Ósseas/etiologia , Doenças Ósseas/patologia , Criança , Diagnóstico Precoce , Terapia de Reposição de Enzimas , Doença de Gaucher/diagnóstico , Doença de Gaucher/tratamento farmacológico , Doença de Gaucher/epidemiologia , Humanos , Adesão à Medicação , Pessoa de Meia-Idade , Fenótipo , Prognóstico , Medição de Risco , Esplenectomia , Adulto Jovem , beta-Glucosidase/uso terapêuticoRESUMO
El virus HTLV-I fue encontrado promotor de la Leucemia T del adulto y de la paraparesia espástica tropical. No es el único virus inculpado con la producción de neoplasias en el hombre. Se trata de un virus muy similar al HTLV-II o HIV, que se propaga en forma muy similar a éste. Tiene como diferencia fundamental, al producción de atipías linfoides y su muy largo período de incubación. Se lo encuentra en casi todo el mundo, pero su origen es el sur del Japón, si bien es endémico en la costa Americana del Pacífico, donde produce el cuadro neurológico mencionado anteriormente