{"title":"Gitelman syndrome with hypercalcemia and normomagnesemia: A case report.","authors":"Zhenlin Tan, Chen Liu, Zheng Feng, Zhimei Luo, Xiaofen Lian, Donghui Lu","doi":"10.1097/MD.0000000000042610","DOIUrl":null,"url":null,"abstract":"<p><strong>Rationale: </strong>Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, whose main symptoms are long-term hypokalemia, hypomagnesemia, hypochloremic metabolic alkalosis, and hypocalciuria.</p><p><strong>Patient concerns: </strong>This study reported a GS patient with hypercalcemia combined with normomagnesemia.</p><p><strong>Diagnoses: </strong>GS with hypercalcemia.</p><p><strong>Interventions: </strong>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.</p><p><strong>Outcomes: </strong>The patient received regular individualized long-term potassium supplementation and was followed regularly.</p><p><strong>Lessons: </strong>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.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 22","pages":"e42610"},"PeriodicalIF":1.3000,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000042610","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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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.
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