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EnglishGaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-glucosidase, which results in the accumulation of lipid glucocerebroside in macrophages throughout the body. In this case report we describe the case of a young adult woman with splenomegaly as the primary manifestation of this pathology. This is a case of type 1 Gaucher disease because there is a lack of primary neurological involvement but we have, instead, an age-independent involvement of the visceral organs. It is very important to classify or characterize these patients in a precise manner and to make a complete diagnosis with the help of the many diagnostic resources now at our disposal, especially with genetics, radiology and new techniques of advanced microscopy, also because Gaucher disease requires a long and complex management from early life to adulthood.
Merra, G., Lago, A., Ricci, R., Antuzzi, D., Gasbarrini, G. B., Gasbarrini, A., Ghirlanda, G., Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman, <<CASE REPORTS IN GASTROENTEROLOGY>>, 2008; 2 (3): 474-478. [doi:10.1159/000178329] [http://hdl.handle.net/10807/21423]
| Autori: | ||
| Titolo: | Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1159/000178329 | |
| Data di pubblicazione: | 2008 | |
| Abstract: | Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-glucosidase, which results in the accumulation of lipid glucocerebroside in macrophages throughout the body. In this case report we describe the case of a young adult woman with splenomegaly as the primary manifestation of this pathology. This is a case of type 1 Gaucher disease because there is a lack of primary neurological involvement but we have, instead, an age-independent involvement of the visceral organs. It is very important to classify or characterize these patients in a precise manner and to make a complete diagnosis with the help of the many diagnostic resources now at our disposal, especially with genetics, radiology and new techniques of advanced microscopy, also because Gaucher disease requires a long and complex management from early life to adulthood. | |
| Lingua: | Inglese | |
| Rivista: | ||
| Citazione: | Merra, G., Lago, A., Ricci, R., Antuzzi, D., Gasbarrini, G. B., Gasbarrini, A., Ghirlanda, G., Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman, <<CASE REPORTS IN GASTROENTEROLOGY>>, 2008; 2 (3): 474-478. [doi:10.1159/000178329] [http://hdl.handle.net/10807/21423] | |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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