Volumen: 17 # Number : Número Extraordinario
Publication Date : Agosto Year: 2013
Authors: Guillermo Drelichman; Nora Basack; Dr. Nicolás Fernández Escobar Nora Watman; Dra. Moira Bolesina; Graciela Elena; Dr. Samuel Ernesto Veber; Dra. Regina Kohan; Dra. Marta Dragosky; Dra. Isabel Annetta; Dra. Aurora Feliu ; Dra. Gabriela Sciuccati; Dra. Maria Fernanda Cuello; Dra. Alcira Fynn; Dra. Raquel Dodelson de Kremer; Dra. Celia J. Angaroni; Dra. Alicia N Giner-Ayala; Dra. Ana Oller de Ramirez; Dr. Norberto B. Guelbert; Dra. María Andrea Delgado; Dra. Adriana Becerra; Dra. Beatriz Oliveri; Dra. María Silvia Larroudé; Dra. Francisca María Masllorens; Dra. Marina Szlago; Dra. Andrea B. Schenone; Aguilar; Volpacchio
Abstract: Gaucher disease is the most common lysosomal storage disease. It is a multisystem chronic and progressive disorder. The determination of a decreased
acid ß-GA is mandatory for the diagnosis and it is essential before initiating enzyme replacement
therapy (ERT).The presence of Gaucher cells in the liver, lymph nodes and bone marrow biopsy specimens guides to the diagnosis but does not replace
the determination of the enzyme activity.
From the analysis of previous published papers we conclude that enzyme replacement therapy with Imiglucerase is the current standard therapy which has significantly improved the quality of life of patients
with type I Gaucher disease.
Treatment of Gaucher disease is life-long. The establishment
of therapeutic goals encourage patients
to adhere to treatment and minimizes interruptions.
Achievement of therapeutic goals serves as a marker to evaluate the consequences of changes
or adjustments in the therapeutic regimen. The dose adjustment or the frequency of the administration
only should be considered when the most relevant therapeutic goals have been achieved , which should be maintained with each modification
of the therapeutic regimen. The lost of any of the therapeutic goals indicates a failure of the treatment modification, although it should be considered
the possibility of an intercurrent condition which could confound the analysis of the evolution of the disease.
The individualized treatment of Gaucher I patients with ERT under the guidance of an experienced multidisciplinary team, specialized in metabolic diseases is the most efficient and cost-effective method to improve the health of patients with Gaucher I disease. Nevertheless it is difficult to integrate the updated scientific information available,
related to diagnostic techniques, initial dose, maintenance, and treatment suspension. This can give rise to contradictory conclusions, variations in clinical practise , inadequate treatments and less efficient cost-effective practises. For these reasons it becomes necessary to organize and study critically
the available information , in order to be able to generate recommendations in agreement with the scientific evidence and with the national facts in the managements of this pathologies.
The present work represents the evaluation of the updated scientific information, which will be revised,
analysed and amplified periodically.
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Pages : 25-60
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