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2003;25(2):89-95
Artigo/Article
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Ambulatório de Doenças Metabólicas Hereditárias – Universidade Federal de São Paulo.
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Instituto Estadual de Hematologia Arthur de Siqueira Cavalcanti – HEMORIO – Rio de Janeiro-RJ.
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Hemato Oncologia Infantil - Santa Casa de Misericórdia de São Paulo.
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Departamento de Pediatria da Faculdade de Medicina – Universidade Federal de Minas Gerais.
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Unidade de Hepatologia Pediátrica – Instituto da Criança do Hospital das Clínicas – Faculdade de Medicina da USP.
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Centro Geral de Pediatria - Fundação Hospitalar do Estado de Minas Gerais (FHEMIG).
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Disciplina de Hemato-Oncologia Infantil do Departamento de Pediatria – Universidade Federal do Paraná.
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Hepatologia Infantil do Hospital da Restauração – Pernambuco.
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Fundação Centro de Hemoterapia e Hematologia do Pará (HEMOPA).
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Serviço de Hematologia do Hospital Evangélico de Londrina – Paraná.
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Departamento de Genética Clínica – Hospital de Clínicas de Porto Alegre – Universidade Federal do Rio Grande do Sul.
12
Serviço de Ortopedia Pediátrica – Hospital Sao Bento – Belo Horizonte – Minas Gerais.
13
Serviço de Hematologia e Oncologia do Depto. de Clínica Medica da Fac. de Ciências Médicas da Sta. Casa de São Paulo.
Grupo Brasileiro de Estudos em Doença de Gaucher e outras Doenças de Depósito Lisossômico (GBDDL)
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da TRE nos pacientes portadores de DG,19,32-36 mainly in the spleen, liver, bone marrow, and lung
porém existem controvérsias quanto à dose da macrophages. The clinical manifestations of Gaucher
enzima recombinante a ser utilizada.20,22,23,25,37- disease depend on the enzyme deficiency level. There
40
Devido ao custo da enzima, existem inúme- are three types of the disease, namely, Type I,
corresponding to a non-neuropathic form affecting
ros trabalhos tentando mostrar efeitos similares
both adults and children with hepatosplenomegaly,
com baixas doses, porém há falta de rigor nes- anemia, thrombocytopenia, leukopenia, and bone
ses relatos, que não separam pacientes graves lesions; Type II, corresponding to an acute neuropathic
de leves, adultos de crianças e até colocam no form affecting 4- to 5-month-old babies with a severe
estudo portadores de DG que nem têm indica- neurological condition, hepatosplenomegaly, and lung
ção de fazer a TRE.19-23,32-40 O uso da TRE com damage; Type III, corresponding to a chronic
baixas doses em pacientes com DG do tipo I neuropathic form affecting both children and teenagers
tem levado ao aparecimento de graves compli- with less severe neurological conditions than Type II,
cações ósseas nos mesmos.41 besides being able to cause damage to liver, spleen
No futuro, a partir do maior conhecimento and bones. A group of fourteen physicians experienced
in treating Gaucher disease by enzyme replacement
dos pacientes de cada região do mundo e dos
therapy has performed an extensive literature review
efeitos da TRE a longo prazo, a dose poderá on the subject and compared data of the evolution of
ser racionalmente individualizada, levando em Brazilian patients, having reached a consensus as
conta as necessidades do paciente. regards the criteria to start treatment, the enzyme do-
O mais importante é que, ao decidir sobre ses and frequency of infusions, as well as medical
o tratamento e acompanhamento do paciente evaluations and laboratory and radiological monitoring.
com DG, o médico avalie os dados disponíveis The purpose of this pioneering initiative is to standardize
na literatura e os resultados da sua experiên- the conduct within the country, of Gaucher disease
cia, pesando as vantagens e desvantagens para treatment using enzyme replacement therapy, which is
a saúde do paciente, mesmo tendo consciência an expensive treatment but with an expressive efficacy.
Rev. bras. hematol. hemoter. 2003;25(2):89-95.
do alto custo da medicação.
Novas tentativas terapêuticas estão sendo Key words: Gaucher disease; deposit disease; Brazil.
estudadas42 e é importante que elas sejam incre-
mentadas, para que no futuro nenhum paciente
seja privado de ter uma melhora tão fantástica na Referências Bibliográficas
qualidade da sua vida, como a que temos obser-
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vado em nossos pacientes com DG que recebem purview. São Paulo Medical Journal/Rev Paul Med
a TRE, e isto realmente não tem preço. 1999;117(6): 251-65.
O Consenso Brasileiro do Tratamento da 2. Scriver CR. Foreword IN: Blau N, Duran M, Blaskovics
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Recebido: 20/07/02
Aceito: 15/12/02
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