摘要
目的探讨家族性多发内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)的发病特点、诊断流程和治疗原则。方法对北京大学深圳医院诊治的一组多发内分泌腺瘤病1型家系的临床表现、诊断要点、治疗方法和转归进行回顾性分析。结果同一家族中3例病人被先后诊断为MEN1,并通过基因检测发现一种新的MEN1基因突变位点。针对甲状旁腺功能亢进均给予手术治疗,术后1个月随访甲状旁腺激素水平均恢复正常。结论家族性MEN1的诊断包括临床诊断、家族史和基因诊断3个方面。治疗需要多学科讨论治疗方案,针对甲状旁腺功能亢进者,甲状旁腺次全切除或全切除+甲状旁腺种植是指南推荐的标准手术方案,但目前对于年轻的早期病人仍有一定争议。
Objective To explore characteristics, diagnosis and treatment principles for the familial multiple endocrine neoplasia type 1 （MEN1）. Methods The clinical manifestations, diagnosis, treatment and prognosis were analyzed for a group of familial MEN1 diagnosed in Peking University Shenzhen Hospital recently. Results 3 cases were diagnosed as MEN1 in a same family, and a new MEN1 gene mutation was detected by gene detection. All patients were given surgical treatment for hyperparathyroidism, and the parathyroid hormone levels were restored to normal a month later. Conclusion The diagnosis of familial MEN1 includes 3 aspects： clinical diagnosis, family history and gene diagnosis.Treatment plan requires multidisciplinary treatment options,The standard operation mode was subtotal parathyroidectomy or total parathyroidectomy plus autotransplantation for hyperparathyroidism, But there is still some controversy about early and young patients.
出处
《中国实用外科杂志》
CSCD
北大核心
2017年第3期266-270,共5页
Chinese Journal of Practical Surgery
作者简介
通信作者：韦伟，E—mail：rxwei1123@163．oom
