Arao Tadashi, Okada Yosuke, Tanikawa Takahisa, Inatomi Hisato, Shuin Taro, Fujihira Takashi, Yamashita Hiroyuki, Tanaka Yoshiya
First Department of Internal Medicine, University of Occupational and Environmental Health, Japan, School of Medicine, Kitakyushu.
Endocr J. 2002 Apr;49(2):181-8. doi: 10.1507/endocrj.49.181.
A rare case of von Hippel-Lindau (VHL) disease with bilateral pheochromocytomas, right renal cell carcinoma, right pelvic carcinoma, spinal hemangioblastoma and primary hyperparathyroidism is described. A 78-year-old woman had a history of hypertension from her forties. She suffered from headache and body weight loss. Abdominal CT revealed bilateral adrenal tumors and right external renal tumors enhanced in early stage. MIBG scintigraphy exhibited a high accumulation of tracer in both adrenal glands. On the basis of the radiographic findings and endocrinological results, the patient was diagnosed as having bilateral pheochromocytomas and right renal cell carcinoma. A bilateral adrenectomy was performed, followed by surgery for resection of the renal cell carcinoma. The other resected right kidney showed a clear cell subtype that was determined to be renal cell carcinoma, and proved that the pelvic tumor was transient cell carcinoma. Spinal MRI showed spinal hemangioblastoma. von Hippel-Lindau (VHL) gene mutation for the patient was found. We diagnosed the patient as VHL because of the existence of spinal hemangioma and a VHL disease gene. Parathyroid echo revealed a hypoechoic space on the back of the left lobe, and serum calcium and intact PTH to be elevated. The patient was diagnosed as primary hyperparathyroidism. We report the first case of a patient with VHL disease complicated with bilateral pheochromocytomas, right renal cell carcinoma, right renal pelvic carcinoma and primary hyperparathyroidism. The life expectancy of affected individuals has been less than 50 years. Since the prognosis may be improved by an early diagnosis, affected individuals with VHL complexes should undergo cranial, spinal MRI and abdomen CT. The families may benefit from presymptomatic detection of affected gene carriers and the exclusion of at-risk family members by negative test results.
本文描述了一例罕见的von Hippel-Lindau（VHL）病患者，其患有双侧嗜铬细胞瘤、右肾细胞癌、右肾盂癌、脊髓血管母细胞瘤和原发性甲状旁腺功能亢进。一名78岁女性自40多岁起就有高血压病史。她出现头痛和体重减轻症状。腹部CT显示双侧肾上腺肿瘤以及右肾外肿瘤在早期有强化表现。间碘苄胍（MIBG）闪烁显像显示双侧肾上腺均有高放射性示踪剂聚集。根据影像学检查结果和内分泌学检查结果，该患者被诊断为双侧嗜铬细胞瘤和右肾细胞癌。患者接受了双侧肾上腺切除术，随后进行了肾细胞癌切除术。切除的右肾的另一部分显示为透明细胞亚型，确诊为肾细胞癌，且证实盆腔肿瘤为移行细胞癌。脊髓MRI显示脊髓血管母细胞瘤。检测发现该患者存在von Hippel-Lindau（VHL）基因突变。由于存在脊髓血管瘤和VHL病基因，我们将该患者诊断为VHL病。甲状旁腺超声显示左叶后方有低回声区，血清钙和完整甲状旁腺激素水平升高。该患者被诊断为原发性甲状旁腺功能亢进。我们报告了首例VHL病合并双侧嗜铬细胞瘤、右肾细胞癌、右肾盂癌和原发性甲状旁腺功能亢进的病例。该病患者的预期寿命不足50岁。由于早期诊断可能改善预后，患有VHL综合征的患者应接受头颅、脊髓MRI和腹部CT检查。通过对受影响基因携带者进行症状前检测以及通过阴性检测结果排除高危家庭成员，其家族可能会从中受益。
