| Autor: |
Zinovkin Dmitry A., Pranjol Md Zahidul Islam, Kravchenko Dmitry, Kravchenko Olga, Kudryashov Vadim |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
Folia Medica, Vol 60, Iss 4, Pp 647-650 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
1314-2143 |
| DOI: |
10.2478/folmed-2018-0043 |
| Popis: |
Gaucher disease is a metabolic storage disorder caused by a mutation in the lysosomal enzyme B-glucocerebrosidase. This disease is usually manifested in new born infants, however, an exceptional case of this disease in adult has been recently reported. A 21-year-old Caucasian patient was diagnosed with Gaucher disease, demonstrating Virchow’s lymphatic node enlargement and mild splenomegaly. A familial link to this disease was also found. Macrophage infiltration was observed in the aff ected Virchow’s lymph node which is not a classic sign of Gaucher disease. DNA analysis and a whole blood count also suggested a manifestation of this disease. In summary, this is the first study to report such case of Gaucher disease in an adult female patient, which may suggest an asymptomatic characteristic of this condition and an importance of the presence of Gaucher cells in the enlarged Virchow’s lymph node |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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