摘要
目的 总结多发性内分泌腺瘤病1型(MEN1)的诊疗现状及预后。方法 MEN1病人2例,临床表现以甲状旁腺功能亢进症为主,1例行甲状腺癌根治术+甲状旁腺次全切除术,1例行甲状旁腺次全切除术。结果 2例病人均发现了甲状旁腺素(PTH)升高及血钙升高,超声及MIBI检查提示甲状旁腺腺瘤,基因检测证实MEN1基因突变,采用了手术切除3.5个甲状旁腺,术后甲状旁腺素(PTH)及血钙均恢复至正常范围。结论 MEN1是一种罕见的常染色体显性遗传病,容易漏诊和误诊。综合分析临床资料,合理运用基因检测辅以手术等适宜干预措施对MEN1诊疗和预后具有重要意义。
Objective To investigate the diagnosis, treatment and prognosis of multiple endocrine neoplasia syndrome type 1(MEN1).Methods There were 2 MEN1 patients, whose clinical manifestations were mainly hyperparathyroidism, 1 underwent radical thyroidectomy + subtotal parathyroidectomy, and the other underwent subtotal parathyroidectomy.Results Elevated parathyroid hormone(PTH) and blood calcium were found in both patients.Ultrasound and MIBI showed parathyroid adenoma.Gene detection confirmed MEN1 gene mutation.The two patients were both treated by resection of 3.5 parathyroids, and the PTH and blood calcium had returned to the normal range after operation.Conclusion MEN1 is a rare autosomal dominant inherited disorder, which is easy to be missed and misdiagnosed.Comprehensive analysis of clinical data, rational use of gene detection combined with surgery and other appropriate intervention measures are of great significance to the diagnosis, treatment and prognosis of MEN1.
作者
顾青青
王建华
陈国芳
曹晨燕
GU Qingqing;WANG Jianhua;CHEN Guofang(Department of Thyroid and Breast Surgery,Affiliated Hospital of Integrated Traditional Chinese and Western Medicine,Nanjing University of Chinese Medicine,Jiangsu Province,Nanjing 210028,China;不详)
出处
《临床外科杂志》
2022年第3期226-229,共4页
Journal of Clinical Surgery
基金
江苏省卫健委课题(BJ18029)。
