高钙血症-尿钙不低-钙敏感受体突变  

Hypercalcemia-normocalciuria- calcium sensing receptor mutation

作　　者：姜悦 杨静 宋桉 聂敏 姜艳 李梅 夏维波 邢小平 王鸥 JIANG Yue;YANG Jing;SONG An;NIE Min;JIANG Yan;LI Mei;XIA Wei-bo;XING Xiao-ping;WANG Ou(Department of Endocrinology,Key Laboratory of Endocrinology,National Health Commission,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,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,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》2022年第4期378-384,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金面上项目(81873641,82070817)。

摘　　要：家族性低钙尿症高钙血症(familial hypocalciuric hypercalcemia,FHH)是甲状旁腺素(parathy-roid hormone,PTH)依赖性高钙血症的少见病因,其典型生化特征为高钙血症和低钙尿症。本文报道1例表现为高钙血症、尿钙不低的患者,经基因检测明确诊断为FHH,提示临床医生发现高钙血症、尿钙正常范围的原发性甲状旁腺功能亢进症(primary hyperparathyroidism,PHPT),仍不能完全除外FHH的可能。Familial hypocalciuric hypercalcemia(FHH)is a rare cause of parathyroid hormone(PTH)dependent hypercalcemia,which is characterized by biochemical features of hypocalciuric hypercalcemia.Here we reported a patient presenting with hypercalcemia with normocalciuria,who was diagnosed as FHH by genetic testing.It is suggested that it is still necessary to differentiate FHH from primary hyperparathyroidism(PHPT)in patients with hypercalcemia without hypocalciuria.

关 键 词：家族性低钙尿症高钙血症 原发性甲状旁腺功能亢进症 钙敏感受体 高钙血症 

分 类 号：R736.2[医药卫生—肿瘤]