GCM2突变相关原发性甲状旁腺功能亢进症的发病机制及临床特点  

The pathogenesis and clinical features of GCM2 mutation related primary hyperparathyroidism

作　　者：宋桉 王鸥 邢小平 Song An;Wang Ou;Xing Xiaoping(Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Science and Peking Union Medical College,Key Labroary of Endocrinology,National Health Commission,Beijing 100730,China)

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,卫生健康委员会内分泌重点实验室,北京100730

出　　处：《中华内分泌代谢杂志》2022年第5期437-439,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：原发性甲状旁腺功能亢进症(primary hyperparathyroidism,PHPT)大部分为散发性,少数(<10%)病例为家族性或综合征性。其中胶质细胞缺失基因2(glial cell missing 2,GCM2)在2016年被Guan B等证实为一种新的PHPT致病基因,目前共4个GCM2变异被证实与家族性或散发性PHPT具有确定的相关性。本文就GCM2突变相关PHPT的发病机制及临床特点进行综述。The majority of primary hyperparathyroidism(PHPT)are sporadic,and less than 10%of cases are hereditary or part of familial syndromes.Glial cell missing 2(GCM2)was confirmed to be a new pathogenic gene of PHPT in 2016.At present,four GCM2 mutations have been confirmed to have certain correlations with familial or sporadic PHPT.The purpose of this review is to summarize the pathogenesis and clinical features of GCM2 mutation related primary hyperparathyroidism.

关 键 词：原发性甲状旁腺功能亢进症 胶质细胞缺失基因2 发病机制 临床特点 

分 类 号：R582.1[医药卫生—内分泌]