中华骨质疏松和骨矿盐疾病杂志2024，Vol.17Issue(2)：155-160,6.DOI:10.3969/j.issn.1674-2591.2024.02.009
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
A case of Gitelman syndrome with asymptomatic primary hyperparathyroidism
陈健 1于晓会 1王晓黎 1李玉姝 1单忠艳1
作者信息
- 1. 110001 沈阳,中国医科大学附属第一医院内分泌与代谢病科,内分泌研究所||卫健委(共建)甲状腺疾病诊治重点实验室
- 折叠
摘要
Abstract
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.关键词
Gitelman综合征/SLC12A3基因/无症状型原发性甲状旁腺功能亢进症Key words
Gitelman syndrome/SLC12A3 gene/asymptomatic primary hyperparathyroidism分类
医药卫生引用本文复制引用
陈健,于晓会,王晓黎,李玉姝,单忠艳..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[J].中华骨质疏松和骨矿盐疾病杂志,2024,17(2):155-160,6.
