Skeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients
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- 作者：Guillermo Drelichman ; Nicolá ; s Ferná ; ndez Escobar ; Nora Basack ; Luis Aversa ; Marí ; a Silvia Larroude ; Gabriela Aguilar ; Marina Szlago ; Andrea Schenone ; Alcyra Fynn ; Marí ; a Fernanda Cuello ; Marcela Aznar ; Ramiro Ferná ; ndez ; Alba Ruiz ; Paola Reichel ; Norberto Guelbert ; Hugo Robledo ; Nora Watman ; Moira Bolesina ; Graciela Elena ; S. Ernesto Veber ; Graciela Pujal ; Graciela Galvá ; n ; Juan José ; Chain ; Adriana Arizo ; Julieta Bietti ; Daniel Bar ; Marta Dragosky ; Marisa Marquez ; Leonardo Feldman ; Katja Muller ; Sandra Zirone ; Greogorio Buchovsky ; Victoria Lanza ; Alba Sanabria ; Ignacio Ferná ; ndez ; Rossana Jaureguiberry ; Marcelo Contte ; Angie Barbieri Marí ; a ; Alejandra Maro ; Graciela Zá ; rate ; Gabriel Ferná ; ndez ; Marí ; a Cristina Rapetti ; Hugo Donato ; Adriana Degano ; Gustavo Kantor ; Roberto Albina ; Marí ; a Á ; lvarez Bollea ; Marí ; a Brun ; Viviana Bacciedoni ; Francis Del Rí ; o ; Bá ; rbara Soberó ; n ; Nazario Boido ; Maya Schweri ; Sandra Borchichi ; Victoria Welsh ; Marcela Corrales ; Alejandra Cedola ; Analí ; a Carvani ; Blanca Diez ; Lucí ; a Richard ; Ccecilia Baduel ; Gabriela Nuñ ; ez ; Rubé ; n Colimodio ; Lucí ; a Barazzutti ; Hugo Medici ; Susana Meschengieser ; Germá ; n Damiani ; Marí ; a Nucifora ; Beatriz Girardi ; Sergio Gó ; mez ; Maura Papucci ; David Veró ; n ; Luis Quiroga ; Gustavo Carro ; Patricia De Ambrosio ; José ; Ferro ; Marcelo Pujol ; Cristina Cabral Castella ; Liliana Franco ; Gisela Nisnovich ; Marí ; a Veloso ; Isabel Pacheco ; Mario Savarino ; André ; s Marino and José ; Luis Saavedra
- 刊名：American Journal of Hematology
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：91
- 期：10
- 页码：E448-E453
- 全文大小：396K
- ISSN：1096-8652
文摘
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.