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摘要: 本文报道1例合并乏力、低血钾、高血糖的青年女性患者。其既往合并糖尿病，因乏力、发现血钾低5年而就诊，辅助检查示低血钾、低血镁、代谢性碱中毒、低尿钙，SLC12A3致病性突变，确诊为Gitelman综合征。予以氯化钾、镁剂治疗后，患者乏力得到改善，血钾、血镁基本正常，口服降糖药物后血糖控制达标。本文梳理该患者的诊疗历程，并结合文献复习，以期为临床诊疗提供参考。
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关键词:
- 低钾血症 /
- 低镁血症 /
- Gitelman综合征 /
- 糖尿病
Abstract: We report a case of a young female patient with fatigue, hypokalemia, and hyperglycemia. She had past-history of diabetes mellitus, and was admitted to hospital with a history of fatigue and hypokalemia for 5 years. The patient's examination indicated hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and SLC12A3 gene pathogenic mutation. The diagnosis was Gitelman syndrome. Potassium and magnesium supplements were given to improve the patient's fatigue. Serum potassium and magnesium were normal. The blood glucose reached standard after treatment with oral hypoglycemic drugs. This article incorporates literature review to sort out the diagnosis and treatment of Gitelman syndrome, in order to provide feasible reference for clinicians.-
Key words:
- hypokalemia /
- hypomagnesemia /
- Gitelman syndrome /
- diabetes
作者贡献：陈蓉负责病例整理、论文撰写及修订；王曦、宋桉、王佳佳、李伟参与病例讨论并提供诊疗思路；陈适、邢小平负责提供专业指导并提出修订意见。利益冲突：所有作者均声明不存在利益冲突注：本研究发表已征得患者知情同意。 -
图 1 Sanger基因测序可见SLC4A3基因第10个外显子c.1195C＞T杂合突变和第17个外显子c.2099T＞C杂合突变
Figure 1. The patient's Sanger sequencing results indicated that the heterozygous mutation of c.1195C > T in the tenth exon and c.2099T > C in the seventeenth exon in SLC4A3 gene
表 1 Gitelman综合征与经典型Bartter综合征的鉴别要点
Table 1. Differential diagnosis between Gitelman syndromeand classical Bartter syndrome
指标 Gitelman综合征 经典型Bartter综合征 起病时期 青少年或成年 儿童期 低血钾 有 有 代谢性碱中毒 有 有 肾素活性 高 高 低血镁 有 无 低尿钙 有 无 前列腺素E水平 正常 高 氢氯噻嗪试验 无反应 有反应 呋塞米试验 有反应 无反应 生长发育迟缓 少见 有 病变部位 远曲小管 髓袢升支粗段 突变基因 SLC12A3 CLCNKB 
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