CaSR基因突变致高钙血症1例OA北大核心CSTPCD

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.