Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

Author Cox, T. M. Google Scholar
Aerts, J. M. F. G. Google Scholar
Belmatoug, N. Google Scholar
Cappellini, M. D. Google Scholar
vom Dahl, S. Google Scholar
Goldblatt, J. Google Scholar
Grabowski, G. A. Google Scholar
Hollak, C. E. M. Google Scholar
Hwu, P. Google Scholar
Maas, M. Google Scholar
Martins, A. M. Autor UNIFESP Google Scholar
Mistry, P. K. Google Scholar
Pastores, G. M. Google Scholar
Tylki-Szymanska, A. Google Scholar
Yee, J. Google Scholar
Weinreb, N. Google Scholar
Institution Univ Cambridge
Univ Amsterdam
Assistance Publ Hop Paris
IRCCS
St Franziskus Hosp
Univ WA
Cincinnati Childrens Hosp Med Ctr
Natl Taiwan Univ Hosp
Universidade Federal de São Paulo (UNIFESP)
Yale Univ
NYU
Childrens Mem Hlth Inst
Genzyme Corp
Univ Res Fdn Lysosomal Storage Dis
NW Oncol Hematol Associates PA
Abstract Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international panel; this includes the development, by consensus, of achievable treatment goals. Here we critically review these goals and monitoring guidelines and incorporate emerging experience of the disease in the therapeutic era, as well as contemporary clinical research. This review makes recommendations related specifically to the management of pregnancy; the appropriate use of splenectomy and bisphosphonate treatment; the relevance of biochemical markers to disease monitoring; and the use of semi-quantitative methods for assessing bone marrow infiltration. in addition, we identify key areas for development, including the requirement for a validated index of disease severity; the need to correlate widely used biomarkers with long-term disease outcomes, and the desirability of establishing agreed standards for monitoring of bone disease particularly in infants and children with Gaucher disease.
Language English
Date 2008-06-01
Published in Journal of Inherited Metabolic Disease. Dordrecht: Springer, v. 31, n. 3, p. 319-336, 2008.
ISSN 0141-8955 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 319-336
Origin http://dx.doi.org/10.1007/s10545-008-0779-z
Access rights Closed access
Type Review
Web of Science ID WOS:000256928700004
URI http://repositorio.unifesp.br/handle/11600/30691

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