Tomita N, Moriguchi A, Yamasaki K, Taniyama Y, Kotani N, Hashiya N, Yoshida M, Yao M, Higaki J, Ogihara T
Department of Geriatric Medicine, Osaka University Medical School, Suita, Japan.
Hypertens Res. 2001 Jul;24(4):445-50. doi: 10.1291/hypres.24.445.
Von Hippel-Lindau (VHL) disease is an inherited neoplastic disease characterized by a predisposition to develop retinal angiomas, central nervous system hemangioblastomas, renal cell carcinomas, pancreatic cysts and pheochromocytomas. Recently, we encountered three members of the same family who each had both VHL disease and pheochromocytoma. As in all three patients we suspected pheochromocytoma, the diagnosis of VHL disease should be considered. The possible presence of VHL disease was initially investigated in all three patients based on the presence of pheochromocytoma. A mutational analysis of the VHL gene revealed the presence of a missense mutation, consisting of a G to A transversion, at nucleotide 713 in all three patients. This germline point mutation in the VHL gene is often detected in type 2 VHL disease with pheochromocytoma. Genetic analysis seems to be useful for early detection of VHL disease, even when the formal criteria for diagnosis of this disease are lacking.
冯·希佩尔-林道（VHL）病是一种遗传性肿瘤疾病，其特征是易患视网膜血管瘤、中枢神经系统血管母细胞瘤、肾细胞癌、胰腺囊肿和嗜铬细胞瘤。最近，我们遇到了同一家族的三名成员，他们都患有VHL病和嗜铬细胞瘤。由于在所有三名患者中我们都怀疑患有嗜铬细胞瘤，因此应考虑VHL病的诊断。基于嗜铬细胞瘤的存在，最初在所有三名患者中对VHL病的可能存在进行了调查。VHL基因的突变分析显示，所有三名患者在核苷酸713处均存在错义突变，由G到A的颠换组成。VHL基因中的这种种系点突变在伴有嗜铬细胞瘤的2型VHL病中经常被检测到。即使缺乏诊断该疾病的正式标准，基因分析似乎对VHL病的早期检测也很有用。
