GAUCHER DISEASE - STUDIES OF PHENOTYPE, MOLECULAR DIAGNOSIS AND TREATMENT

This report summarizes the results on 39 patients with Gaucher disease who have been genotyped, evaluated, and/or followed at this center. M utation analysis for 4 common mutations; N370S, L444P, 84gg and IVS2 ( +1), was performed for all patients. Mutation analysis identified both mutant alleles in 69% and at least one mutant allele in 90% of all ch romosomes. This study group of 39 patients included 32 type 1, four ty pe 2 and three type 3 patients. We include the details of the clinical course of two patients with Gaucher disease treated with enzyme repla cement therapy (ERT). One patient with chronic neuronopathic Gaucher d isease has been treated with enzyme replacement therapy (ERT) at a dos e of 60 U/kg every 2 weeks since 2.5 years of age and has shown no pro gression of neurologic involvement. A second patient with non-neuronop athic Gaucher disease has demonstrated an unusually delayed response t o ERT. No clinical response was noted following 17 months of treatment at 60 U/kg every 2 weeks. Only after the dose was increased to 60 U/k g every week was a clinical response evident. Response to treatment at 15 U/kg every 2 weeks was variable in the four type 1 patients treate d at the lower dose. In two of these patients with identical genotypes , one patient demonstrated a positive clinical response to low dose tr eatment while the other patient did not.