| 摘要: |
| 目的研究2例Gitelman综合征患者的临床特点及其SLC12A3基因的突变特点，以提高对该病的认识。方法回顾2例临床诊断为Gitelman综合征的青少年男性患者的临床表现、实验室检查结果等，并对SLC12A3基因进行测序，以确定其突变位点。结果2例患者均表现为不同程度的乏力，低血钾、低血镁、低尿钙，及高血浆肾素活性、高醛固酮水平。应用氯化钾缓释片、门冬氨酸钾镁针、钙镁片治疗后，患者乏力有所缓解，但是易反复。基因检测共发现3个SLC12A3基因的突变位点，均为错义突变：Thr163Met、Gly196Val、Arg871His。患者A存在杂合突变（Thr163Met、Arg871His），患者B存在纯合突变（Gly196Val）。结论SLC12A3基因检测有助于早期明确诊断Gitelman综合征。 |
| 关键词: Gitelman 综合征 突变 SLC12A3 基因 |
| DOI：10.12056/j.issn.1006-2785.2017.40.1.2017-406 |
| 分类号: |
| 基金项目:浙江省自然科学基金资助（LY15H070003） |
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| Clinical features and gene mutation analysis of two young patients with Gitelman syndrome |
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the Second Affiliated Hospital of Wenzhou Medical University
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| Abstract: |
| Objective To analyze the clinical features and SLC12A3 gene profile of Gitelman syndrome (GS). Methods The clinical symptoms, biochemical features and SLC12A3 gene mutations were analyzed in two young male patients with Gitelman syndrome (GS). Results The two patients presented with varying degrees of weakness. Laboratory tests confirmed hypokalemia, hypomagnesemia, hypocalciuria; a high blood renin activity and aldosterone levels were detected. After receivinga potassium chloride sustained-release tablets, potassium magnesium aspartate injection and calcium magnesium tablets, the serum potassium, magnesium, and chlorine levels were increased and the symptoms were relieved described. Three missense mutations were identified in the SLC12A3 gene of two patients at Thr163Met, Gly196Val, Arg871His; patient A had heterozygous mutations at Thr163Met and Arg871His, patient B had homozygotic mutation at Gly196Val. Conclusion SLC12A3 gene analysis is essential for early diagnosis of Gitelman syndrome. |
| Key words: Gitelman syndrome Mutation SLC12A3 gene |
