| Autor: |
D R, Shah, J, Hoeksema, S M, Korbet |
| Rok vydání: |
2000 |
| Předmět: |
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| Zdroj: |
Clinical nephrology. 53(3) |
| ISSN: |
0301-0430 |
| Popis: |
We present an adult man who, while being evaluated for gross hematuria, was found to have polycystic kidneys and multiple bilateral renal cell carcinomas. Further evaluation and the presence of a significant family history of cancer suggested the diagnosis of von Hippel-Lindau disease. Through the aid of genetic testing, this unusual diagnosis was confirmed and led to the identification of other family members with the von Hippel-Lindau gene. Patients with von Hippel-Lindau disease have an increased incidence of malignant carcinomas and the syndrome can mimic the presentation of other cystic diseases of the kidney. Early diagnosis and genetic screening of family members is essential to improve the prognosis and survival of those affected. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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