【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。更多还原

【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 2.9mmol/L) with elevated parathyroid hormone(PTH),left and right hip with osteopenia,normal lumbar bone mass,and24-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.更多还原