Gaucher Disease (GD) was the first described and is the most common lysosomal deposit disease. It is characterized byahereditary deficiency of glucocerebrosidase lysosomal enzyme activity which blocks the metabolism of glucocerebrosideo. The aim of this work was to study the clinical, laboratorial and radiological characteristics, the main mutations correlating them with the clinical form of the disease and evaluating the response to enzymatic replacement therapy in patients with GD in Santa Catarina. Ten GD patients were studied at a University Hospital between 1998 and 2003. The disease was diagnosed by measurement of the beta-glucosidase enzyme in leukocytes. Investigation of mutations used samples of blood and oral mucus. The average age at diagnosis was 19.6 years. Type 1 GD was diagnosis in 80% of the cases and type 2 in 20%. Four patients had a family history of GD. Hepatosplenomegaly was the most common clinical manifestation. Anemia and thrombocitopenia occurred in all cases. Bone pain was reported by 75% of the patients. The mutanted alleles identified were N370S and L444P. The hemoglobina levels were elevated in all patients with type 1 GD. In conclusion, type 1 GD is the most common clinical form and anemia, thrombocitopenia, hepatosplenomegaly and osteopenia were the most common characteristics of GD patients. The N370S allele is the most common mutation and is related with type 1 GD 1. Homozygosity of the L444P allele suggests early death. Enzyme replacement therapy is safe and efficacious in type 1 GD.
Gaucher disease; lipidosis; glucocerebrosidase; genotype
