血镁正常的Gitelman综合征1例及文献复习

doi:10.3969/j.issn.1004-583X.2022.11.013

摘要/Abstract

摘要：

目的探讨Gitelman综合征的临床特点,评价血镁在鉴别Gitelman综合征和Bartter综合征中的价值。方法回顾性分析河北医科大学第二医院内分泌科收治的1例正常血镁的Gitelman综合征患者的临床表现、诊疗过程及结局,并进行相关文献复习。结果患者临床表现为低钾血症、代谢性碱中毒、正常血镁、低血压及肾素-血管紧张素-醛固酮系统活化,经基因检测明确Gitelman综合征的诊断。结论 Gitelman综合征表型存在异质性,基因型-表型研究尚不完善。以低镁血症区分Gitelman综合征和Bartter综合征是不严谨的,应进一步行基因检测明确诊断。

关键词: Gitelman综合征, 正常血镁, 基因诊断

Abstract:

Objective To investigate the clinical characteristics of Gitelman syndrome and evaluate the differential value of blood magnesium in Gitelman syndrome and Bartter syndrome. Methods A case of Gitelman syndrome with normomagnesemia admitted to the Department of Endocrinology of the Second Hospital of Hebei Medical University was retrospectively analyzed for its clinical manifestations, diagnosis and treatment process and treatment outcome, and the relevant literature was reviewed. Results The patient presented with hypokalemia, metabolic alkalosis, normomagnesemia, hypotension and the activation of the renin-angiotensin-aldosterone system. The diagnosis of Gitelman syndrome was confirmed by genetic testing. Conclusion The phenotype of Gitelman syndrome is heterogeneous, and the genotype-phenotype studies are not perfect. Therefore, it is not rigorous to use hypomagnemia as the criterion to distinguish Gitelman syndrome from Bartter syndrome in the suspected clinical diagnosis. Further genetic testing should be performed to confirm the diagnosis.

Key words: Gitelman syndrome, normomagnesemia, gene diagnosis

中图分类号:

R692.6

仝天, 王瑞英, 张力辉, 刘志红, 骆建芹, 赵占胜. 血镁正常的Gitelman综合征1例及文献复习[J]. 临床荟萃, 2022, 37(11): 1031-1036.

Tong Tian, Wang Ruiying, Zhang Lihui, Liu Zhihong, Luo Jianqin, Zhao Zhansheng. Gitelman syndrome with normomagnesemia: A case report and literature review[J]. Clinical Focus, 2022, 37(11): 1031-1036.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2022.11.013

https://huicui.hebmu.edu.cn/CN/Y2022/V37/I11/1031

图/表 8

参考文献 37

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体位	日期	肾素 (pg/ml)	血管紧张素 (pg/ml)	醛固酮 (pg/ml)	醛固酮/ 肾素比值
卧位	2017-11-20	466.78	665.09	124.04	0.27
立位	2017-11-20	496.11	484.08	100.08	0.20

体位	日期	肾素 (pg/ml)	血管紧张素 (pg/ml)	醛固酮 (pg/ml)	醛固酮/ 肾素比值
卧位	2017-11-20	466.78	665.09	124.04	0.27
立位	2017-11-20	496.11	484.08	100.08	0.20

时间(min)	血糖(mmol/L)	胰岛素(μIU/ml)	C肽(ng/ml)
0	3.84	23.9	4.85
30	7.04	186	17.7
60	9.05	>300	>20
120	7.84	>300	>20
180	5.38	170	190

时间(min)	血糖(mmol/L)	胰岛素(μIU/ml)	C肽(ng/ml)
0	3.84	23.9	4.85
30	7.04	186	17.7
60	9.05	>300	>20
120	7.84	>300	>20
180	5.38	170	190

日期	血钠	血钾	血氯	血钙	血磷	血镁
2017-11-11	137.4	2.73	99.9	2.12	1.43	1.02
2017-11-12	139.4	2.95	94.7	2.45	0.81	0.94
2017-11-13	135.0	2.69	95.8	2.49	0.85	0.95
2017-11-14	137.0	2.46	97.2	2.30	1.30	1.00
2017-11-15	134.4	2.48	95.7	2.36	1.43	0.89
2017-11-16	137.9	2.89	96.9	2.30	1.57	0.90
2017-11-17	137.5	3.00	99.9	2.37	1.74	0.91
2017-11-18	138.9	3.07	97.7	2.36	2.02	0.88
2017-11-19	136.2	2.80	99.0	2.51	1.78	1.01
2017-11-20	135.3	2.92	97.5	2.62	1.64	0.98
2017-11-21	139.9	3.11	101.1	-	-	-
2017-11-22	138.0	2.81	97.2	-	-	-
2017-11-23	136.9	2.71	95.1	-	-	-
2017-11-24	135.8	2.73	96.0	-	-	-
2017-11-25	135.7	2.80	95.0	-	-	-
2017-11-26	133.8	2.82	93.2	-	-	-
2017-11-27	137.6	3.18	95.6	-	-	-