Gitelman综合征合并无症状型原发性甲状旁腺功能亢进症一例报告OA北大核心CSTPCD

This article reports a case of Gitelman syndrome(GS)with SLC12A3 gene mutations and asymptomatic primary hyperparathyroidism(aPHPT).A 63-year-old female often experienced lacking in strength for fifteen years was ad-mitted to our hospital.Laboratory tests showed hypokalemia,hypomagnesaemia,metabolic alkalosis,hypophosphatemia,while the level of Ca and parathyroid hormone(PTH)were increased,the urinary calcium were normal.The patient had no other clinical manifestations such as nausea,bone pain or hematuria except occasional muscle spasm at night.Gene sequen-cing revealed heterozygous mutations of c.197C＞T(p.T60M)and c.1115C＞T(p.P372L)separately in exon1and exon9 of SLC12A3 gene,therefore the patient was confirmed with GS.Based on the clinical manifestations and laboratory tests of the patient,it is considered that the patient suffering from GS combined with aPHPT.