Background: The clinical characteristics of Latin American children enrolled in the International Collaborative\nGaucher Group Gaucher Registry at the time of first enzyme therapy infusion (baseline) were investigated, with\nspecial emphasis on long-term outcomes.\nMethods: Inclusion criteria were all Latin American patients with Gaucher disease type 1 who were <18 years at\nstart of imiglucerase (Genzyme) or alglucerase (Genzyme) therapy. Patients were stratified based on whether they\nhad a confirmed diagnosis of glucocerebrosidase deficiency and clinical findings of anemia, thrombocytopenia,\nhepatomegaly, splenomegaly, bone disease and/or growth retardation at baseline. Patients were evaluated only\nif they had at least one follow-up for a given parameter. Data were analyzed using nonlinear mixed models.\nResults: As of October 2011, 443 patients met inclusion criteria. At diagnosis (n = 443) some children presented\nwith anemia (189/353), thrombocytopenia (199/339), bone pain (88/248) and bone crises (30/242), while most\nchildren reported splenomegaly (volumetric: 55/57; palpation: 204/221), hepatomegaly (volumetric: 32/37; palpation:\n204/230), and radiological evidence of bone disease (107/149). Of those children symptomatic at baseline, 174 had\nanemia, 184 had thrombocytopenia and 129 had mean height Z-scores of < ?2.0. Volumetric evaluations indicate\nhepatomegaly and splenomegaly. After 8 years of treatment, children showed improvements in mean hemoglobin\nlevels, platelet count, liver and spleen volumes, growth, bone pain and bone crises.\nConclusion: Continuous and long-term treatment with imiglucerase improves hematological, visceral and skeletal\nmanifestations of Gaucher disease type 1.
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