Volumen: 17 # Number : Número Extraordinario
Publication Date : Agosto Year: 2013
Authors: Drelichman G1; Fernández Escobar N1; Basack N1; Aversa L1; Kohan R; Watman N; Bolesina M; Elena G; Veber SE; Dragosky M; Annetta I; Feliu A; Sciuccati G; Cuello MF; Fynn A7;
Dodelson de Kremer R; Angaroni CJ; Giner-Ayala AN; Oller de Ramirez A; Guelbert NB; Delgado MA; Becerra A; Oliveri B; Larroudé MS; Masllorens FM; Szlago M; Schenone AB12
Abstract: Due to its low frequency, Gaucher Disease is considered
to be an orphan disease. The enrollment of patients
in the International Colaborative Gaucher Group (ICGG) Gaucher Registry (supported by Genzyme, a Sanofi company) started in 1991. The first two patients from Latin America were enrolled in 1992. The Argentinian
Group for Diagnosis and Treatment of Gaucher Disease was created in 2006 and its main objective was to understand the prevalence, presentation, management
and treatment of Gaucher disease in Argentina.
As of February 01, 2013 the ICGG Registry has 5986 patients from 60 countries and 133 (2.22%) of them, were from Argentina. This analysis focuses on 133 patients
with Gaucher disease from Argentina. This is the first publication from the Argentinian Group for Diagnosis
and Treatment of Gaucher Disease using data from the ICGG Gaucher Registry. The analysis showed female predominance and the most common clinical phenotype
found was Gaucher Disease Type 1 (97.7%, n=128). Genotype was obtained in 57 patients (42.9%), and the most frequent mutation was the association N370S with another allele (82.5%). Among patients with data reported,
the most prevalent symptoms observed at initiation of Imiglucerasa therapy were hepatomegaly (88.9%, n=8), splenomegaly (100%, n=13), thrombocytopenia (64.2%, n=34) and anemia (45.9%, n=28). Bone marrow infiltration as a specific marker of bone disease was reported
in 50% of the patients.In total, 85.7% of argentinian
patients are receiving therapy with Imiglucerasa, and most of them have achieved their therapeutic goals at the most recent assessment. The most frequently achieved
therapeutic goals were: bone manifestations (bone pain and bone crisis with 81.9% and 99%, respectively) and hemoglobin normalization (86.5%). Enzyme therapy with Imiglucerasa in argentinian patients proved to be an effective tool to improve clinical and biochemical parameters
of Gaucher Disease.
Key words: Gaucher disease, Argentina, lysosomal
storage disease
Pages : 4-16
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