肾脏病与透析肾移植杂志 ›› 2019, Vol. 28 ›› Issue (2): 194-197.DOI: 10.3969/j.issn.1006-298X.2019.02.021
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18岁男性，病程3年，以乏力症状起病，辅助检查提示低钾血症、代谢性碱中毒、低镁血症、低氯血症、低尿钙、高尿钾，高肾素、醛固酮水平，基因检测发现SLC12A3基因突变新位点，诊断为Gitelman综合征，予以补钾治疗后乏力症状缓解。
关键词: Gitelman综合征, 低血钾, 代谢性碱中毒, SLC12A3
Abstract:
A 18yearold male was characterized by weakness.And he primarily appeared hypokalemia,metabolicalkalosis,hypomagnesemia,hypochloremia,hypocalcinuria,high urinary potassium,hyperreninemia and hyperaldosteronemia.A new mutational site in SLC12A3 gene was found.The final diagnosis of the patient was Gitelman syndrome.He was given potassiumtherapy,and the patients weakness recovered gradually.
Key words: Gitelman syndrome, hypokaliemia, metabolic alkalosis, SLC12A3
窦为娟，王瑞风，沈业琴，等. SLC12A3基因杂合突变致青少年Gitelman综合征[J]. 肾脏病与透析肾移植杂志, 2019, 28(2): 194-197.
DOU Weijuan,WANG Ruifeng,SHEN Yeqin,et al. Gitelman syndrome caused by new heterozygous mutation of SLC12A3 gene[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2019, 28(2): 194-197.
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http://www.njcndt.com/CN/Y2019/V28/I2/194
