Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

ABSTRACT:

Background

Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.

Methods

We evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We analysed geographical distribution, demographic, genetic and clinical data, age at diagnosis, type, and years of therapy in 436 GD patients from the IP.

Results

The prevalence of GD was 1/149,000 inhabitants; 88.3% were type 1, 6.7% type 2, and 5.0% type 3. The mean age at diagnosis in type 1 was 28.7 years. A total of 72.7% were classified as having mild forms, 25.5% moderate, and 1.7% severe. Anemia and thrombocytopenia were present in 56% and 55%, respectively. Bone diseas

SUBMITTER: Giraldo P 

PROVIDER: S-EPMC3349595 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature