Gitelman syndrome with normomagnesemia: A case report and literature review

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

Abstract

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

CLC Number:

R692.6

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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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2022.11.013

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

Figures/Tables 8

References 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	-	-	-