Dergiler / Türk Üroloji Dergisi/Turkish Journal of Urology / 2003 / Cilt: 29 - Sayı: 1
Von Hippel -Lindau hastalığı
- Sayfa
- 35–38
- DOI
- —
Özet
Von Hippel-Lindau hastalığı böbrek hücreli karsinoın gibi değişik organların benin ve malin tümör gelişimi ile karakterize otozomal dominant geçişli bir hastalıktır. 3. kromozomun kısa kolunda (3p25-26) yerleşimli VHL geninde meydana gelen mutasyonlar hastalığın gelişiminden sorumludur. Ürolojik lezyonlar ilk bulgu olabileceğinden, renal lezyonlarla karşılaşıldığında hastaya ve ailesinde etkilenen bireylere erken tanı ve tedavi mümkün olabilir. Bu çalışmada kliniğimize başvuran ve VHL hastalığı bulunan 3 olguda elde edilen deneyimlerimiz tartışıldı.
Abstract
Introduction: Von Hippel-Lindau disease is an inherited autosomal dominant disease characterized by the development of benign and malignant tumors in different organs including renal cell carcinoma. Urologic lesions may be the initial presentation of VHL giving the urologist a unique opportunist to diagnose the disease early and treat affected patients or their family members. We presented our experience of 3 cases with VHL disease. Material and Methods: We analyzed 3 VHL patients diagnosed between November 1994 and March 2002, retrospectively. We recorded age, sex, symptoms and history of patients. Laboratory and radiological findings and postoperative pathologic examinations are also re-evaluated. We recorded and investigated the findings specific to VHL disease both seen in patients and their family members. Results: 2 female, 1 male patient was followed 32, 3 months (24-39) and mean patient age was 44 years (41-47). Renal cell carcinomas were multiple and multiple cysts lined with atypical epithelium accompanied to these tumors. Pancreatic cystic disease was observed in all patients and epididymal cystadenoma was found in the male patient. Tumors specific to VHL disease were detected in their families. One female patient died after 24 months of follow up because of cerebral metastasis. Conclusion: Detecting a finding of VHL disease early has an impact on the life of the patient and family members. On account of this the clinicians will be able to prevent deaths due to cerebellar hemorragia and metastasis of malign tumors. Diagnosing a renal cell carcinoma seen in a young patient must let the clinician be suspicious of VHL disease.