Landry Christine S, Waguespack Steven G, Perrier Nancy D
Department of Surgical Oncology, Unit 444, The University of Texas M. D. Anderson Cancer Center, Houston, TX 77030, USA.
Surg Clin North Am. 2009 Oct;89(5):1069-89. doi: 10.1016/j.suc.2009.06.020.
The development of genetic testing has given patients with familial endocrine diseases the opportunity to be identified earlier in life. The importance of this technological advancement cannot be underestimated, as some of these heritable diseases have significant potential for malignancy. This article focuses on the identification and surgical management of familial endocrinopathies of the thyroid, parathyroid, adrenal glands, and pancreas. Familial endocrinopathies discussed include hereditary nonmedullary carcinoma of the thyroid, Cowden disease, familial adenomatous polyposis, Carney complex, Werner syndrome, familial medullary thyroid carcinoma, Pendred syndrome, hereditary hyperparathyroidism jaw-tumor syndrome, familial isolated hyperparathyroidism, Beckwith- Wiedemann syndrome, Li-Fraumeni syndrome, neurofibromatosis I, von Hippel-Lindau disease, and tuberous sclerosis.
基因检测的发展使患有家族性内分泌疾病的患者有机会在生命早期被识别出来。这项技术进步的重要性不可低估，因为其中一些遗传性疾病具有显著的恶变潜力。本文重点关注甲状腺、甲状旁腺、肾上腺和胰腺家族性内分泌病的识别与外科治疗。所讨论的家族性内分泌病包括甲状腺遗传性非髓样癌、考登病、家族性腺瘤性息肉病、卡尼综合征、维尔纳综合征、家族性髓样甲状腺癌、彭德莱德综合征、遗传性甲状旁腺功能亢进颌骨肿瘤综合征、家族性孤立性甲状旁腺功能亢进、贝克威思-维德曼综合征、李-佛美尼综合征、神经纤维瘤病I型、冯·希佩尔-林道病和结节性硬化症。
