【作者】 潘一峰；

【导师】 李成江；

【作者基本信息】 浙江大学 ， 内科学（专业学位）， 2015， 硕士

【摘要】 目的总结3例多发性内分泌腺瘤病2A型的诊治经过,结合文献对本病的发病机制、临床表现、诊断及治疗等加以探讨,以便在今后的诊疗中做到早诊断、早治疗。方法回顾分析2012-2014年浙江大学医学院附属第一医院收治的3例MEN2A的临床资料。结果3例患者均有明显的临床表现,以儿茶酚胺增多的表现为主,如阵发性血压升高、心悸、出汗、头晕头痛、恶心呕吐、震颤等。三者均存在肾上腺嗜铬细胞瘤,有不同程度的甲状腺异常,不伴甲状旁腺增生、腺瘤,经相关生化、影像及病理检查,临床诊断为MEN2A,并予手术治疗,1例患者甲状腺癌及肾上腺嗜铬细胞瘤术后有复发。结论当患者出现甲状腺、肾上腺及甲状旁腺增生或腺瘤等多种内分泌腺体肿瘤时需考虑本病,RET基因检测是诊断本病的金标准,若无条件行基因检测,生化和影像检查是临床上常用的辅助诊断方法。目前治疗主要以手术切除为主,对于本病,提倡早诊断、早治疗。更多还原

【Abstract】 ObjectiveTo summary3cases and to review the literature of Multiple endocrine neoplasia type2A to discuss the pathogenesis, clinical manifestations, diagnosis and treatment in order to have patients of such disease diagnosed and treated earlier in the future.MethodsClinical datas of3cases of Multiple endocrine neoplasia admitted in the1st affiliated hospital of Medical College, Zhejiang University among2012-2014were analyzed retrospectively.ResultsThree patients all had obvious clinical manifestation mainly owing to increased catecholamine such as paroxysmal hypertension, heart palpitations, sweating, dizziness, headache, nausea, vomiting and tremor. They all had adrenal pheochromocytoma, different levels of thyroid abnormalities, no parathyroid hyperplasis or adenoma, and diagnosed as MEN2A by biochemical tests, imaging and pathological examination. They were treated by surgery, and one patient had recurrence of thyroid carcinoma and pheochromocytoma.ConclusionsPatients with tumors in more than one endocrine gland like thyroid, adrenal and parathyroid should be considered such disease, RET genetic testing is the gold standard for diagnosis of this disease, biochemical tests and imaging detection are common ways to help diagnosis in clinic when genetic testing is not available. Surgical excision is the predominant way to treat MEN2A, early diagnosis and treatment are very important for patients.更多还原