CaSR基因突变致家族性低尿钙性高钙血症1例报告并文献复习  

Familial hypocalciuric hypercalcemia caused by CaSR gene mutation:a case report and literature review

作　　者：薛涛 姚瑶 陈巧云 张倩为 陈晓鸥 汤明明 杨玮 索丽霞 王丽华[2] XUE Tao;YAO Yao;CHEN Qiao-yun;ZHANG Qian-wei;CHEN Xiao-ou;TANG Ming-ming;YANG Wei;SUO Li-xia;WANG Li-hua(Department of Endocrinology,Jiading District Central Hospital Affiliated to Shanghai University of Medicine&Health Sciences,Shanghai 201800,China;Department of Endocrinology and Metabolism,Renji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 201100,China)

机构地区：[1]上海健康医学院附属嘉定区中心医院内分泌科,上海201800 [2]上海交通大学医学院附属仁济医院内分泌代谢病科,上海201100

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2024年第5期467-473,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：上海健康医学院代谢性血管疾病临床研究中心项目(20MC2020004)。

摘　　要：家族性低尿钙性高钙血症(familial hypocalciuric hypercalcemia,FHH)是钙稳态失衡的罕见病因,为常染色体显性遗传疾病,主要生化表现为轻度高钙血症和尿钙排泄降低,临床无明显症状,一般预后良好。本文报告1例非特异表现的FHH1型患者临床资料,家族基因检测结果提示为新的钙敏感受体(calcium-sensing receptor,CaSR)基因序列杂合无义突变,遗传自患者父亲。FHH的临床误诊率较高,通过对FHH发病特点和诊疗思路的复习,能够提高临床医生对FHH等罕见病的探索和诊断能力。Familial hypocalciuric hypercalcemia(FHH)is a rare cause of calcium dyshomeostasis,and is an autosomal dominant disease with the main biochemical manifestations of mild hypercalcemia and decreased urinary calcium excretion.The patient usually has no obvious symptoms and good outcomes.In this article a case of FHH1 with non-specific clinical manifestation was reported and the familial genetic test showed a new calcium-sensing receptor(CaSR)gene heterozygous nonsense mutation,inherited from the patient s father.The misdiagnosis rate of FHH is relatively high.Through learning the pathogenesis,diagnosis and treatment of FHH,clinicians can improve their exploration and diagnosis ability of rare diseases like FHH.

关 键 词：家族性低尿钙性高钙血症 高钙血症 钙敏感受体 基因检测 

分 类 号：R589.5[医药卫生—内分泌]