CaSR基因突变致高钙血症1例  

A mutation in CaSR gene causing hypercalcemia:a case report

作　　者：高姗 陈小宇 周新丽 GAO Shan;CHEN Xiao-yu;ZHOU Xin-li(Department of Endocrinology and Metabolism,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250021,China;Shandong Diabetes and Metabolic Disease Clinical Medical Research Center,Shandong Key Laboratory of Endocrinology and Lipid Metabolism,Shandong Provincial Endocrine and Metabolic Disease Prevention and Control Engineering Laboratory,Jinan 250021,China)

机构地区：[1]山东第一医科大学附属省立医院内分泌代谢病科,济南250021 [2]山东省糖尿病与代谢疾病临床医学研究中心,山东省内分泌与脂代谢重点实验室,山东省内分泌与代谢性疾病防治工程实验室,济南250021

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2024年第1期56-61,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金(82170860)。

摘　　要：报道1例钙敏感受体(calcium-sensing receptor,CaSR)基因杂合突变致高钙血症患者的临床资料。患者轻度高钙血症(血清钙在2.7~2.9 mmol/L之间)伴高甲状旁腺素(parathyroid hormone,PTH)水平,左、右髋部骨量减少,腰椎骨量正常,24 h尿钙及血清磷、镁水平在正常范围内。提取患者外周血基因组DNA,通过高通量测序平台检测显示CaSR基因第111位氨基酸由苏氨酸突变成异亮氨酸(c.332C>T:p.Thr111Ile)。患者应用西那卡塞治疗后血清钙浓度及PTH水平有下降趋势。Clinical evidence was reported in a patient suffering from hypercalcemia caused by a heterozygous mutation in calcium-sensing receptor(CaSR)gene.The patient had mild hypercalcemia(serum calcium 2.7 to 2.9 mmol/L)with elevated parathyroid hormone(PTH),left and right hip with osteopenia,normal lumbar bone mass,and 24-hour urinary calcium,serum phosphorus and magnesium concentrations within the normal range.Genomic DNA extracted from the blood sample of the patient,detection of the high flow sequencing platform demonstrated that the amino acid at position 111 of the CaSR gene was mutated from threonine to isoleucine(c.332C>T:p.Thr111Ile).Serum concentrations of calcium and PTH decreased after cinacalcet therapy.

关 键 词：高钙血症 钙敏感受体 西那卡塞 

分 类 号：R589.5[医药卫生—内分泌]