新医学Issue(9)：634-638,5.DOI:10.3969/g.issn.0253-9802.2015.09.016
多发性内分泌腺瘤病1型一例
Multiple endocrine neoplasia type 1:one case report
郭宜晨 1段山 2杨川1
作者信息
- 1. 510120 广州，中山大学孙逸仙纪念医院内分泌科
- 2. 518048 深圳，深圳市人口与计划生育科学研究所
- 折叠
摘要
Abstract
Multiple endocrine neoplasia type 1 (MEN1)is an autosomal dominant endocrine tumor syndrome caused by the inactivation and mutation of tumor suppressor gene MEN1.MEN1 encompasses clinical characteristics featuring hyperparathyroidism,pancreatic neuroendocrine tumors and pituitary adenomas,etc.The diagnosis of MEN1 mainly relies on clinical data and comprehensive examination outcomes.Along with re-cent development of gene detection technique,genetic diagnosis plays a pivotal role in enhancing the diagnosis rate of MEN1.However,MEN1 patients have diverse clinical manifestations and severity of diseases,applica-tion of gene detection technique in clinical practice remains controversial.Herein,we reported the clinical da-ta,treatment and prognosis of one case of MEN1.The patient first presented with hypercortisolism (Cushing's syndrome)as onset symptom.Gene detection identified a novel heterozygote G to A transition in exon 10.We also conducted relevant literature review.Comprehensive analysis of clinical data and examination outcomes, proper application of gene detection,individualized therapy and effective follow-up are of clinical significance to improve MEN1 patients’prognosis and quality of life.关键词
多发性内分泌腺瘤病1型/基因突变/个体化治疗/随访Key words
Multiple endocrine neoplasia type 1/Gene mutation/Individualized therapy/Follow-up引用本文复制引用
郭宜晨,段山,杨川..多发性内分泌腺瘤病1型一例[J].新医学,2015,(9):634-638,5.
