OC-87 Gaucher disease in romania – baseline characteristics, specific diagnosis. treatment and outcome

2017

Gaucher disease is a autosomal recessive inherited monogenic disease caused by beta-glucocerebrosidase deficiency. Clinically, there are three types: type 1 (non-neuronopathic), type 2 (acute neuronopathic) and type 3 (chronic neuronopathic), in 92%, 1% and respectively 7% of patients. Specific diagnosis has been possible in Romania since 1997 and enzyme replacement therapy since 2002. The aim of the study is to present the epidemiologic, clinical and molecular data of the Romanian patients with Gaucher disease ant their evolution. Patients and methods Seventy-nine patients (76 patients with Gaucher disease type 1 and 3 patients with Gaucher disease type 3; F/M=1.37/1) were evaluated clinic…