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|---|---|---|---|---|
| 45_755.pdf | 559.39 kB | Adobe PDF | 見る/開く |
| タイトル: | von Hippel-Lindau病に合併した腎癌の1例およびその家系におけるDNA解析の必要性 |
| その他のタイトル: | A case of renal cell carcinoma associated with von Hippel-Lindau disease and the necessity for family genetic diagnosis |
| 著者: | 南里, 正之  宇田, 光夫 井口, 靖浩 合谷, 信行 東間, 紘 木原, 健 |
| 著者名の別形: | NANRI, Masayuki UDA, Mitsuo IGUCHI, Yasuhiro GOUYA, Nobuyuki TOMA, Hiroshi KIHARA, Takeshi |
| キーワード: | von Hippel-Lindau disease Genetic diagnosis |
| 発行日: | Nov-1999 |
| 出版者: | 泌尿器科紀要刊行会 |
| 誌名: | 泌尿器科紀要 |
| 巻: | 45 |
| 号: | 11 |
| 開始ページ: | 755 |
| 終了ページ: | 758 |
| 抄録: | We report a 47-year-old man who had bilateral renal cell carcinoma (RCC) associated with von Hippel-Lindau (VHL) disease. Surgical resection of hemangioblastomas and left nephrectomy for RCC had been done previously. This time, a small RCC was found in his right kidney and enucleation was performed to preserve renal function. His mother had retinal angioma, hemangioblastoma, and bilateral RCC. Hemangioblastoma was also found in his daughter. Genetic diagnosis was performed in his family and a germline VHL mutation was recognized. For improvement of the prognosis of VHL disease, genetic diagnosis and early clinical assessment are important. |
| URI: | http://hdl.handle.net/2433/114162 |
| PubMed ID: | 10637737 |
| 出現コレクション: | Vol.45 No.11 |
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