Ana Maria Vlădăreanu *, Cristina Ciufu **, Anca Petre ***, H. Bumbea ****, Veronica Motronea *, Mădălina Begu *****
* Conf. Dr. Ana Maria Vlădăreanu, Șef Clinică Hematologie, Spitalul Universitar de Urgență, UMF, “Carol Davila”, București
** Dr. Cristina Ciufu, Dr. Veronica Motronea – medic rezident hematologie, an V
*** Dr. Anca Petre – medic rezident hematologie, an I
**** Asist. Univ. Dr. Horia Bumbea – medic primar hematologie clinică – Clinica de Hematologie, Spitalul Universitar de Urgență, București
***** Dr. Mădălina Begu – medic specialist de laborator
Abstract
Gaucher Disease is the most common lysosomal storage disorder, is a multisystemic condition that results from autosomal recesive mutations in the gene encod ing glucocerebrosidase. We suspect pacients having Gaucher Disease when they suffer from: hepatomegaly, splenomegaly, hematologycal disorders ( trombocytopenia, bleeding tendencies, anemia- without certain cause) and skeletal pathology. The diagnosis is suggested when the bone marrow biopsy showes bone marrow involvement with Gaucher cells and the positive diagnosis is made by dosing the activity of p-glucocerebrosidase (which is under 30% of normal). The best therapy in Gaucher Dis ease , with remarcable results is ERT (Enzyme replace therapy)- Cerezyme. The goals of treatment in Gaucher Disease using Cerezyme are established and it is propose a comprehensive schedule of dosing, monitoring the pa cients and the therapeutic response.