[Gaucher's disease. Report of 4 cases].
Gaucher's disease is a rare condition caused by a deficiency in the lysosomal enzyme called beta-glucocerebrosidase (GBA). The objective of our work was to analyse the clinical, diagnostic and therapeutic characteristics in a group of four patients with Gaucher's disease type 1. The advantages of the new diagnostic and therapeutic techniques are stressed. In all cases the diagnosis was made by means of cyto-histological examination and enzymatic measurement of the beta-glucocerebrosidase activity. A genetic study and genotype determination was made in the four cases. A questionnaire was administered to patients to evaluate their life quality applying the SF36 questionnaire adapted to the Gaucher's disease. All subjects have received enzymatic replacement therapy with the recombinant enzyme imiglucerase (Cerezyme Corporation) with a satisfactory clinical course. Interestingly, eosinophilia was present in one patient, which disappeared after treatment.
Adarraga Cansino
M D
MD
Servicio de Medicina Interna. Hospital Alto Guadalquivir. Andújar. Jaén. Spain. adacan@inicia.es
Fernández de la Puebla
R
R
Jiménez Perepérez
J A
JA
Pocoví Mieras
M
M
Zambrana García
J L
JL
Pérez Jiménez
F
F
D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged