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伴有高钙血症和正常镁血症的吉特林综合征:一例报告。

Gitelman syndrome with hypercalcemia and normomagnesemia: A case report.

作者信息

Tan Zhenlin, Liu Chen, Feng Zheng, Luo Zhimei, Lian Xiaofen, Lu Donghui

机构信息

Department of Endocrinology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.

Shantou University Medical College, Shantou, Guangdong, China.

出版信息

Medicine (Baltimore). 2025 May 30;104(22):e42610. doi: 10.1097/MD.0000000000042610.

Abstract

RATIONALE

Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, whose main symptoms are long-term hypokalemia, hypomagnesemia, hypochloremic metabolic alkalosis, and hypocalciuria.

PATIENT CONCERNS

This study reported a GS patient with hypercalcemia combined with normomagnesemia.

DIAGNOSES

GS with hypercalcemia.

INTERVENTIONS

The patient was treated with a 20 mg spironolactone tablet 2 times/day and a 1 g potassium chloride sustained-release tablet 3 times/day for potassium preservation.

OUTCOMES

The patient received regular individualized long-term potassium supplementation and was followed regularly.

LESSONS

GS is an extremely rare disease, which is characterize by long-term hypokalemia, hypomagnesemia, hypochloremic metabolic alkalosis, and hypocalciuria. But the case reported here combined with hypercalcemia and normomagnesemia. Clinical physicians should increase their awareness of this disease to enable early diagnosis and treatment of GS and reduce missed diagnoses.

摘要

理论依据

吉特曼综合征(GS)是一种罕见的常染色体隐性肾小管疾病,其主要症状为长期低钾血症、低镁血症、低氯性代谢性碱中毒和低钙尿症。

患者情况

本研究报告了一名合并高钙血症和正常镁血症的GS患者。

诊断

合并高钙血症的GS。

干预措施

患者接受保钾治疗,口服螺内酯片20mg,每日2次,氯化钾缓释片1g,每日3次。

结果

患者接受了规律的个体化长期补钾治疗,并定期随访。

经验教训

GS是一种极为罕见的疾病,其特征为长期低钾血症、低镁血症、低氯性代谢性碱中毒和低钙尿症。但本文报道的病例合并了高钙血症和正常镁血症。临床医生应提高对该疾病的认识,以便早期诊断和治疗GS,减少漏诊。

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