St Julien Jamii, Ball Douglas, Schulick Richard
Department of Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA.
J Laparoendosc Adv Surg Tech A. 2006 Oct;16(5):473-7. doi: 10.1089/lap.2006.16.473.
Von Hippel-Lindau disease is a heritable syndrome that confers an increased risk of developing various benign and malignant tumors to those with a germline mutation of the tumor suppressor gene. We present a case of a male patient who initially presented at age 9 with headaches, fevers, and fatigue. He was found to have a left pheochromocytoma which was successfully managed with open total adrenalectomy. He presented again at age 18 with a second pheochromocytoma in the right adrenal gland. DNA analysis revealed a de novo Val84Leu mutation in the Von Hippel-Lindau gene, not seen in either parent. The challenge presented was that of balancing the obvious benefits of cortical- sparing adrenalectomy with the risk of tumor recurrence in spared tissue. Ultimately, management consisted of a robot-assisted laparoscopic partial right adrenalectomy with successful preservation of adrenocortical function.
冯·希佩尔-林道病是一种遗传性综合征，它会使那些肿瘤抑制基因发生种系突变的人患各种良性和恶性肿瘤的风险增加。我们报告一例男性患者，他最初在9岁时出现头痛、发热和疲劳症状。他被发现患有左肾上腺嗜铬细胞瘤，通过开放性全肾上腺切除术成功治疗。他在18岁时再次出现，右侧肾上腺又发现了一个嗜铬细胞瘤。DNA分析显示，冯·希佩尔-林道基因发生了新发的Val84Leu突变，其父母均未出现该突变。面临的挑战是如何在保留肾上腺皮质切除术的明显益处与保留组织中肿瘤复发风险之间取得平衡。最终，治疗方案为机器人辅助腹腔镜下右侧肾上腺部分切除术，并成功保留了肾上腺皮质功能。
