Vellas, Dylan and Gramont, Baptiste and Grange, Rémi and Cathébras, Pascal (2021) Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease. European Journal of Case Reports in Internal Medicine, 8 (9). pp. 1-3. ISSN 2284-2594
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Abstract
Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Gaucher disease, infiltrative lung disease, enzyme replacement therapy |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 15 Dec 2021 13:12 |
| Last Modified: | 15 Dec 2021 13:12 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21461 |
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