In Gaucher disease, where does the build-up of glucosylcerebroside primarily affect?

In Gaucher disease, the primary impact is indeed on the liver and spleen. This condition is a lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase, which is responsible for breaking down glucosylcerebroside, a lipid found in cell membranes. When this enzyme is deficient, glucosylcerebroside accumulates, particularly within macrophages, leading to organomegaly characterized by an enlargement of both the liver and the spleen.

The build-up in these organs causes a range of symptoms, including abdominal distension due to splenomegaly and potential liver dysfunction. The spleen's role in filtering blood and managing immune responses also contributes to the clinical manifestations seen in Gaucher disease, making these organs the main sites affected by the accumulation of the substrate.

Other combinations of organs, such as the heart or lungs and brain or kidney, are not primarily associated with the pathological effects of glucosylcerebroside accumulation in this disease, as the clinical focus of Gaucher disease's complications is centered on hematological and systemic issues related to the liver and spleen.