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 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.
高姗;陈小宇;周新丽
250021 济南,山东第一医科大学附属省立医院内分泌代谢病科||250021 济南,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
临床医学
高钙血症;钙敏感受体;西那卡塞
hypercalcemia;calcium-sensitive receptor;cinacalcet
《中华骨质疏松和骨矿盐疾病杂志》 2024 (001)
56-61 / 6
国家自然科学基金(82170860)
10.3969/j.issn.1674-2591.2024.01.007
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