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SLC12A3基因新突变致Gitelman综合征伴代谢综合征一例报道 被引量：1

A novel SLC12A3 mutation in Gitelman syndrome with metabolic syndrome:a case report
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摘要 回顾性分析1例Gitelman综合征(GS)伴MS患者临床资料,对患者及其父母进行相关基因测序。SLC12A3_ex14 c.1717G>C(p.G573R)推测为SLC12A3基因新突变,分析GS伴MS的可能机制。 The clinical feature of a patient with Gitelman syndrome(GS)and metabolic syndrome(MS)were retrospectively analyzed.The related genes were sequenced in the patient and his parents.SLC12 A3_ex14 c.1717 G>C(p.G573 R)was found to be a novel mutation in SLC12 A3 gene.We then analyzed the possible mechanisms of GS with MS.
作者 聂冬英 楼雪勇 NIE Dongying;LOU Xueyong(Department of Endocrinology,Jinhua Municipal Central Hospital,Jinhua 321000,China)
机构地区 金华市中心医院内分泌科
出处 《中国糖尿病杂志》 CAS CSCD 北大核心 2020年第8期625-628,共4页 Chinese Journal of Diabetes
关键词 GITELMAN综合征 低钾血症 代谢综合征 SLC12A3 Gitelman syndrome Hypokalemia Metabolic syndrome SLC12A3
分类号 R692.6 [医药卫生—泌尿科学]
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中国糖尿病杂志
2020年 第8期

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