GAUCHERS-DISEASE AND PREGNANCY

Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, which i s required for the lysosomal degradation of glycolipids. The clinical manifestations of the disease show a large heterogeneity, including he patosplenomegaly, ''bone crisis'' and fracture, anemia, thrombocytopen ia and, in the rarest types II and Iii, neurological decompensation. T ype I, the most common form, usually presents with less severe symptom s and at a more advanced age. More than 30 mutations within the glucoc erebrosidase gene have been recognized, and certain mutations seem to be related with a particular phenotype expression of the disease. Mode rn diagnosis of Gaucher's disease is performed by either determining t he enzyme activity in peripheral blood leukocytes or through DNA-based analysis. Pregnancy concurrent with Gaucher's disease has several ris ks, including an increased severity of anemia and thrombocytopenia tha t can potentiate postpartum bleeding, and increased risk of infection and possibly an increased spontaneous abortion rate. Nevertheless, the majority of these pregnancies seem to proceed to term without signifi cant complications. The effects that pregnancy might have on the cours e of the disease are still unresolved. Enzyme replacement therapy with alglucerase is the treatment of choice for patients with Gaucher's di sease, but it is yet to be shown whether alglucerase reduces the risk of these complications during pregnancy and whether its use has any ad verse effect on fetal development. We present an extensive review of t he current literature regarding Gaucher's disease with special emphasi s on pregnancies coexistent with this disease and, an analysis of the genetics, relevant prenatal diagnostic issues, and current treatment m odalities.