甲状旁腺功能减退症发病机制的遗传学进展  

Genetic progress of pathogenesis in hypoparathyroidism

作　　者：全婷婷[1] 王鸥[1] 聂敏[1] 邢小平[1] 

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：《中华骨质疏松和骨矿盐疾病杂志》2017年第2期186-193,共8页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金(81270873;81100559);国家临床重点专科建设项目(WBYZ2011-873)

摘　　要：甲状旁腺功能减退症(简称为甲旁减)是因甲状旁腺素产生、分泌减少而引起钙、磷代谢异常,其病因及发病机制的研究主要集中在遗传和免疫两方面,近年来有关遗传机制的研究进展较多,少数先天性或遗传性甲状旁腺功能减退症已发现明确的致病基因,包括与甲状旁腺发育有关的基因、钙磷稳态调节过程中的相关基因,以及遗传性低镁血症的相关基因等。特发性甲状旁腺功能减退症发病机制尚不明确,少数研究显示上述部分基因多态性与其易感性、临床表型可能有关。Hypoparathyroidism is caused by a deficiency of parathyroid hormone （PTH） and is characterized by hypocaleemia, hyperphosphatemia and low or inappropriately normal levels of PTH. The researches about pathogenesis of the disease mainly focus on genetics and autoimmunity. Recently, more and more studies confirm the pathogenic genes of congenital hypoparathyroidism including genes involved in parathyroid glands development, phosphorus and calcium metabolism, and hereditary hypomagnesemia. The pathogenesis of idiopathic hypoparathyroidism remains unclear, even though few studies found out the polymorphisms of genes as above may be relevant to the susceptibility and clinical phenotypes of patients.

关 键 词：甲状旁腺功能减退症 遗传机制 致病基因 基因多态性 

分 类 号：R681[医药卫生—骨科学]