多发性内分泌腺瘤病2A型（MEN2A）中嗜铬细胞瘤的临床特点及治疗  

The clinical features and treatment of pheochromocytoma in multiple endocrine neoplasia type 2a （MEN2A） patients

作　　者：姚斌[1] 柳学[2] 董婷婷[1] 陈雄[1] 徐芸[1] 翁建平[3] 李延兵[1] 

机构地区：[1]中山大学附属第一医院内分泌科,广州510080 [2]广东省人民医院 [3]中山大学附属第三医院内分泌科

出　　处：《中国临床实用医学》2009年第7期1-3,共3页China Clinical Practical Medicine

基　　金：广东省科技计划项目基金资助（项目编号：20078031504004）

摘　　要：目的分析多发性内分泌腺瘤病2A型（MEN2A）家系中嗜铬细胞瘤患者的临床特点，并探讨其治疗方法。方法收集3个MEN2A家系，共有8例MEN2A患者均患有嗜铬细胞瘤，分析这8例患者高血压特点、24h尿VMA及肾上腺CT结果、嗜铬细胞瘤患病情况及治疗方法。结果8例MEN2A患者中7例有甲状腺髓样癌（87．5％），8例有嗜铬细胞瘤（100％），没有发现有HPT的发生，其中6例（75％）患者是以嗜铬细胞瘤起病，而且嗜铬细胞瘤中7例（87．5％）为双侧。8例患者中3例（37．5％）为持续性高血压，5例（62．5％）为阵发性发作高血压，6例（75％）24h尿VMA升高，2例（25％）高血压发作时尿VMA／Cr比值明显升高。4例患者经腹腔镜切除肿瘤，4例经开腹手术切除肿瘤，随诊7例（87．5％）良性嗜铬细胞瘤患者术后随诊均未见肿瘤复发。结论本研究结果提示MEN2A中嗜铬细胞瘤常为双侧，临床可表现为持续性高血压也常有阵发性高血压者，生化及影像学检查有助于诊断，RET基因的突变检测能使MEN2A中嗜铬细胞瘤得到早期诊治，腹腔镜下手术是MEN2A中嗜铬细胞瘤治疗的理想方法。Objective To investigate the clinical features and treatment methods of pheochromotocytoma in multiple endocrine neoplasia type 2A patients. Methods Three unrelated families, among of which 8 were clinically diagnosed MEN2A patients, pheochromocytoma was found in all（ 100% ）of the 8 MEN2A patients. We analysis the clinical feature of blood pressure, the result of 24 hour urine vanillyl mandelic acid （VMA）and adrenal CT, the treatment methods of pheochromocytoma. Results Medullary thyroid carcinoma （MTC） was found in 7 （87.5%）patients, and pheochromocytoma was found in all （100%）of the 8 MEN2A patients. Hyperplasia or adenoma of the parathyroid gland was not found in any of these cases. Among them, pheochromoeytoma was the initial demonstration of the syndrome in 6 patients（75% ） ,and bilateral pheochromocytomas were found in 7 of them（ 87.5 % ）. 3 （37.5 % ）patients present as sustained hypertension and 5 （62. 5 % ）patients present as paroxysmal hypertension ,75% of VMA was elevated and another 25% VMA/Cr was elevated. 4 （ 50% ） patients were operated by open method and 4 （50%） patients were operated by video-assisted laparoscopic method. Conclusion The study indicated that pheochromocytomas was usually bilateral in MEN2A patients. The hypertension may be sustained or paroxysmal, the examinations of biology, imaging and RET gene mutation were useful for early diagnosis and treatment of pheochromotocytoma in MEN2A patients. Laparoscopic surgery was the best choice of treatment.

关 键 词：多发性内分泌腺瘤2A型 嗜铬细胞瘤 临床分析 治疗方法 

分 类 号：R736.6[医药卫生—肿瘤] R730.264[医药卫生—临床医学]