成年起病-低钙血症-低PTH血症-TBX1移码缺失  

Adult onset-hypocalcemia-hypoparathyroxinemia-TBX1 frameshift deletion

作　　者：姜悦 杨静 聂敏 宋桉 王佳佳 姜艳 李梅 夏维波 邢小平 王鸥 JIANG Yue;YANG Jing;NIE Min;SONG An;WANG Jia-jia;JIANG Yan;LI Mei;XIA Wei-bo;XING Xiao-ping;WANG Ou(Department of Endocrinology,Key Laboratory of Endocrinology of National Health Commission,Peking Union Medical College Hospital,Chinese Academy of Medical Science&Peking Union Medical College,Bejing 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,国家卫生健康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》2023年第2期144-150,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金(81873641,82070817)。

摘　　要：甲状旁腺功能减退症(hypoparathyroidism, HP)是一种罕见的内分泌疾病,是由甲状旁腺激素(parathyroid hormone, PTH)合成或分泌缺乏引起的一组临床综合征,其临床特征包括低钙血症、高磷血症、神经肌肉兴奋性增高和软组织异位钙化。本文报道1例成年起病的HP患者,经基因检测发现TBX1移码缺失(NM_080647,exon3:c.161_186del/p.A54Afs*105),考虑诊断为DiGeorge综合征(DiGeorge syndrome, DGS)相关HP,提示临床医生对患者应进行仔细的体格检查和病史询问,有提示时,即使是成年起病的非手术性HP患者,也应考虑进行相关的基因筛查。Hypoparathyroidism(HP)is a rare endocrine disease.It is a group of clinical syndromes caused by the lack of synthesis or secretion of parathyroid hormone(PTH).Its clinical features include hypocalcemia,hyperphosphatemia,increased neuromuscular excitability,and ectopic calcification of soft tissues.This paper reports a case of adultonset HP patient,who was found to have frameshift deletion of TBX1(NM_080647,exon3:c.161_186del:p.A54Afs*105),and was diagnosed as DiGeorge syndrome(DGS)related HP,suggesting that clinicians should conduct careful physical examination and medical history inquiry for patients.If necessary,genetic screening is recommended even in adult-onset non-surgical HP patients.

关 键 词：甲状旁腺功能减退症 DIGEORGE综合征 TBX1基因 移码突变 

分 类 号：R681[医药卫生—骨科学]