Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease

• DOI: 10.12890/2021_002802
• Publication Date: 2021-09-08T07:40:58Z
• Authors: Dylan Vellas; Baptiste Gramont; Rémi Grange; Pascal Cathébras
• Keywords: Substrate reduction therapy; Mononuclear phagocyte system; Cytopenia; Gaucher's disease; Lysosomal storage disease

Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation its substrate (glucosylceramide) in macrophages the reticuloendothelial system, which are then referred as cells. The most frequent symptoms asthenia, spleen and liver enlargement, bone abnormalities cytopenia due marrow infiltration. Lung involvement GD finding, it unclear whether may regress under enzyme replacement therapy (ERT) or reduction (SRT). Here we report case type recently diagnosed an elderly patient complicated infiltrative lung disease, responded ERT.