• Xiaoyan Huang, Miaohui Wu, Lunpan Mou, Yaping Zhang, and Jianjia Jiang.
• Department of Endocrinology, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, China.
• Medicine (Baltimore). 2023 Dec 15; 102 (50): e36663e36663.

RationaleGitelman syndrome (GS) is an uncommon autosomal recessive tubulopathy resulting from a functional deletion mutation in the SLC12A3 gene. Its onset is typically insidious and challenging to discern, and it is characterized by hypokalemia, metabolic alkalosis, and reduced urinary calcium excretion. There is limited literature on the diagnosis and management of GS in individuals with concomitant diabetes.Patient ConcernsA 36-year-old male patient with a longstanding history of diabetes exhibited suboptimal glycemic control. Additionally, he presented with concurrent findings of hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis.DiagnosisBuilding upon the patient's clinical manifestations and extensive laboratory evaluations, we conducted thorough genetic testing, leading to the identification of a compound heterozygous mutation within the SLC12A3 gene. This definitive finding confirmed the diagnosis of GS.InterventionsWe have formulated a detailed medication regimen for patients, encompassing personalized selection of hypoglycemic medications and targeted electrolyte supplementation.OutcomesFollowing 1 week of comprehensive therapeutic intervention, the patient's serum potassium level effectively normalized to 3.79 mmol/L, blood glucose parameters stabilized, and there was significant alleviation of clinical symptoms.LessonsGS has a hidden onset and requires early diagnosis and intervention based on patient related symptoms and laboratory indicators in clinical practice, and personalized medication plans need to be provided according to the specific situation of the patient.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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