CDC73基因突变对儿童/青少年散发性原发性甲状旁腺功能亢进症临床特点的影响  

Effect of CDC73 gene mutation on clinical characteristics of sporadic children/adolescent-onset primarg hyperparathyroidism

作　　者：王文博 孔晶 聂敏 李梅 夏维波 邢小平 王鸥 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科国家卫生和计划生育委员会内分泌重点实验室,北京100730

出　　处：《基础医学与临床》2017年第11期1519-1523,共5页Basic and Clinical Medicine

基　　金：国家自然科学基金(81100559);国家临床重点专科建设项目(WBY2011-873);中国医学科学院医学与健康科技创新工程重大协同创新项目(内分泌肿瘤前沿诊疗技术及发病机制的研究)

摘　　要：目的分析北京协和医院儿童/青少年散发性原发性甲状旁腺功能亢进症(PHPT)的临床特点和基因遗传背景,探索CDC73基因突变对此类患者临床特点的影响。方法总结2000-2016年就诊于北京协和医院的22例儿童/青少年散发性PHPT的临床资料;提取外周血白细胞DNA,进行MEN1、RET、CDKN1B、CDC73和Ca SR基因的PCR扩增及测序。结果 22例中检测到4例CDC73基因突变(突变率18.0%),未发现上述其他致病基因突变;CDC73突变患者中腺癌和不典型腺瘤所占比例分别为75%(3/4)和25%(1/4),明显高于无突变者(6.3%和12.5%),术后复发率高达50%。结论儿童/青少年PHPT应重视基因检测。Objective To summarize the characteristics and molecular genetics of sporadic children/adolescent-onset primary hyperparathyroidism PHPT patients and analyze the difference of characteristics between patients with and without CDC73 gene mutations.Methods Germline mutation analyses of MEN1,CDC73,RET,CDKN1 B,and Ca SR genes were performed in 22 sporadic children/adolescent-onset PHPT patients.Their clinical data were retrospectively analyzed.Results Four patients were found to carry CDC73 mutations with the mutation rate of 18%（4/22）.Patients with CDC73 gene mutationshad higher rates of parathyroid carcinoma and atypical adenomas than those without,and the recurrence rate postoperatively was as high as 50%.Conclusions Genetic mutation testing is recommended in sporadic children/adolescent-onset PHPT patients,especially the CDC73 gene.

关 键 词：原发性甲状旁腺功能亢进症 儿童和青少年 CDC73基因 甲状旁腺癌 

分 类 号：R725.8[医药卫生—儿科]