多发性内分泌腺瘤病1型伴基因新突变1例MDT讨论  

MDT discussion of a patient with multiple endocrine neoplasia type 1 accompanied withnew mutated gene

作　　者：赵辉[1] 郑海涛[1] 韦树建 林湘峰 郭雅文 张珂[1] ZHAO Hui;ZHENG Haitao;WEI Shujian;LIN Xiangfeng;GUO Yawen;ZHANG Ke(Department of Thyroid Surgery,Affiliated Yantai Yuhuangding Hospital of Medical College of Qingdao University,Yantai,Shandong 264000,P.R.China)

机构地区：[1]青岛大学附属烟台毓璜顶医院甲状腺外科,山东烟台264000

出　　处：《中国普外基础与临床杂志》2021年第1期99-103,共5页Chinese Journal of Bases and Clinics In General Surgery

基　　金：山东省医药卫生科技发展计划项目(项目编号:2017WS051);烟台毓璜顶医院青年科研启动基金(项目编号:201819)。

摘　　要：目的总结1例多发性内分泌腺瘤病1型(MEN-1)患者的临床表现、发病机制、诊断及治疗经验,以提高对MEN-1的认识。方法回顾性分析青岛大学附属烟台毓璜顶医院(我院)收治的1例存在基因新突变的MEN-1患者的临床诊治资料。结果患者为1例73岁女性,以“腹痛、腹泻”4 d就诊于我院,经多学科协作团队讨论后,行胰腺、肾上腺、垂体核磁共振及内镜检查进一步明确腹泻原因,同时将患者及其亲属外周血行MEN-1基因检测,检测结果显示,先证者及其女儿存在MEN-1基因第10号外显子c.1401位核苷酸胞嘧啶缺失,该变异导致p.E468R fs移码突变,确诊为MEN-1,对症保守治疗5 d后患者家属要求出院,出院后半个月死亡。结论MEN-1是一种比较罕见的常染色体显性遗传病,临床表现多样,极易漏诊,需警惕与MEN-1相关腺体出现的异常指标,争取做到早诊断、早治疗。Objective To summarize the clinical manifestations,pathogenesis,diagnosis and treatment of multiple endocrine neoplasia type 1(MEN-1)so as to improve the understanding of MEN-1.Method The clinical data of 1 case of MEN-1 with new mutated gene in the Yantai Yuhuangding Hospital of Medical College of Qingdao University(our hospital)were analyzed retrospectively.Results The patient was a 73-year-old woman,who was admitted to our hospital because of“abdominal pain,diarrhea”for 4 d.After discussion by a multidisciplinary team,MRI of pancreatic,adrenal and pituitary,and endoscopy examinations were performed to further identify the cause of diarrhea.Meanwhile,MEN-1 gene was detected in the peripheral blood of the patient and her relatives,and the result showed that the proband and his daughter had a cytosine deletion at c.1401 in exon 10 of MEN-1 gene,which resulted in frame shift mutation of p.e468r fs,it was confirmed as MEN-1.After 5 d of conservative treatment of the disease,the patient’s family requested discharge and the patient died half a month after discharge.Conclusions MEN-1 is a rare autosomal dominant inheritable disease,with diverse clinical manifestations and easy misdiagnosis.Therefore,it is necessary to be alert to abnormal indicators in the glands associated with MEN-1,so as to achieve early diagnosis and treatment.

关 键 词：多发性内分泌腺瘤病1型 MEN-1基因 甲状旁腺肿瘤 多学科协作团队 

分 类 号：R736[医药卫生—肿瘤]