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ISSN 0864-0289 (Print)

2015, Number 2

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Rev Cubana Hematol Inmunol Hemoter 2015; 31 (2)

Cuban experience in enzymatic replacement therapy in Gaucher disease

Lavaut SK, Fernández NR, Leal MP, González OA, Arencibia NA

Language: Spanish
References: 16
Page: 187-194
PDF size: 114.20 Kb.


ABSTRACT

Introduction: Gaucher disease is an inherited disorder of sphingolipid metabolism with autosomal recessive inheritance pattern, determined by the deficiency of the enzyme betaglucocerebrosidase activity, which determines the accumulation of glycolipid material degraded by the lysosomes of macrophages, resulting in the clinical manifestations of the disease. The gene is mapped on chromosome 1q21 and more than 350 mutations have been described. It is classically classified into three types: type 1 (non-neuronopathic, the most common form; type 2 (acute neuronopathic) and type 3 (subacute neuronopathic), although the phenotypic expression is extremely variable. It is characterized by splenomegaly, hepatomegaly, anemia, thrombocytopenia, bone involvement skeletal abnormalities due to bone involvement and sometimes neurological manifestations.
Objectives: to evaluate the results of the application of imiglucerase in seven patients with Gaucher disease.
Methods: a descriptive study was performed to evaluate the behavior of clinical, hematological and ultrasonographic variables of seven patients in the pediatric and adult ages (three patients with type 1 disease, four patients with type 3) and their response after one and five years of enzyme replacement therapy with imiglucerase.
Results: in all patients, increased hemoglobin and number of platelets, and reduced hepatosplenomegaly were found. Patients with type 3 form mantain their neurological involvement without changes. No adverse effects to therapy were observed.
Conclusions: the enzyme therapy with imiglucerase (Cerezyme®) reduces the morbidity and improves quality of life of affected persons, yielding better results if started during childhood.


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