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Title: 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
Other Titles: A case of renal cell carcinoma associated with von Hippel-Lindau disease and the necessity for family genetic diagnosis
Authors: 南里, 正之  KAKEN_name
宇田, 光夫  KAKEN_name
井口, 靖浩  KAKEN_name
合谷, 信行  KAKEN_name
東間, 紘  KAKEN_name
木原, 健  KAKEN_name
Author's alias: NANRI, Masayuki
UDA, Mitsuo
IGUCHI, Yasuhiro
GOUYA, Nobuyuki
TOMA, Hiroshi
KIHARA, Takeshi
Keywords: von Hippel-Lindau disease
Genetic diagnosis
Issue Date: Nov-1999
Publisher: 泌尿器科紀要刊行会
Journal title: 泌尿器科紀要
Volume: 45
Issue: 11
Start page: 755
End page: 758
Abstract: 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.
PubMed ID: 10637737
Appears in Collections:Vol.45 No.11

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