Gitelman syndrome with hypercalcemia and normomagnesemia: A case report

吉特曼综合征伴高钙血症和正常镁血症:病例报告

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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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