中华骨质疏松和骨矿盐疾病杂志2024，Vol.17Issue(1)：56-61,6.DOI:10.3969/j.issn.1674-2591.2024.01.007
CaSR基因突变致高钙血症1例
A mutation in CaSR gene causing hypercalcemia:a case report
摘要
Abstract
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 extrac-ted 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 concentra-tions of calcium and PTH decreased after cinacalcet therapy.关键词
高钙血症/钙敏感受体/西那卡塞Key words
hypercalcemia/calcium-sensitive receptor/cinacalcet分类
医药卫生引用本文复制引用
高姗,陈小宇,周新丽..CaSR基因突变致高钙血症1例[J].中华骨质疏松和骨矿盐疾病杂志,2024,17(1):56-61,6.基金项目
国家自然科学基金(82170860) （82170860）
