Gaucher's disease in a patient presenting with hip and abdominal pain
| Autor: | Resorlu, Mustafa, Aylanc, Nilufer, Karatag, Ozan, Toprak, Canan Akgun |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Revista da Associação Médica Brasileira v.63 n.12 2017 Revista da Associação Médica Brasileira Associação Médica Brasileira (AMB) instacron:AMB Revista da Associação Médica Brasileira, Volume: 63, Issue: 12, Pages: 1025-1027, Published: DEC 2017 |
| Popis: | Summary Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy. Support therapy is added in patients developing infection, anemia or pain. We describe a case of hepatosplenomegaly, splenic infarction, splenic nodules and femur fracture determined at radiological imaging in a patient under monitoring due to Gaucher's disease. |
| Databáze: | OpenAIRE |
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