[Type I Gaucher's disease. Report of 2 affected families]

Gaucher's disease (GD) is the most common lisosomic deposit disorders which is caused by an inherited deficit of the glucocerebrosidase enzyme. The most common for in the adult is type I and the clinical manifestations include liver and spleen enlargement, thrombocytopenia, and skeletal changes. Four patients with GD type I are here reported. They belonged to two different families and these underwent enzyme and genetic investigations. Eight healthy carriers were identified and the genetic counsel was given. The most relevant clinical manifestations included liver and spleen enlargement (3/4), thrombocytopenia (3/4), skeletal changes (2/4) and pulmonary involvement (1/4). Diagnosis was achieved by the demonstration of a decrease in the leukocyte enzymatic activity in the four patients. The mutation observed most frequently (66%) was N370S. The patient with pulmonary involvement has been under substitutive enzyme therapy for 9 months by means of alglucerase infusions (placental derivative of glucocerebrosidase), and an improvement in pulmonary function testing has been observed.