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Background: Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by a defect in the thiazide-sensitive Na⁺-Cl⁻ cotransporter in the distal convoluted tubule. It presents with hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. In resource-limited settings, diagnosis is often made on clinical and biochemical grounds without genetic confirmation. Objective: To describe the clinical and biochemical spectrum of six patients with GS diagnosed over two years at a tertiary care center. Methods: This case series included six patients diagnosed clinically and biochemically with GS between 2024 and 2025. Data on demographics, presenting symptoms, biochemical parameters, treatment, and outcomes over six months were collected at a tertiary care hospital in Dr. RPGMCT and a Himachal Pradesh, India. Genetic testing was not performed due to unavailability. Results: The mean age of patients was 39.7 ± 13.1 years (range 17–45 years), including 4 males and 2 females. One female had a history of hypertension; the rest had no co morbidities. All patients presented with generalized weakness, 5/6 had muscle cramps, 4/6 fatigue, and 3/6 paresthesias. Tetany was observed in 2 patients. Biochemical evaluation showed hypokalemia (2.50 ± 0.21 mEq/L), metabolic alkalosis (HCO₃⁻ 32 ± 1.41mEq/L),pH7.492 ± 0.016, hypomagnesemia (1.20 ± 0.14mg/dL), and hypocalciuria (urinary calcium 45 ± 18 mg/day). Plasma renin activity and aldosterone were elevated in all. Patients were treated with spironolactone, potassium, and magnesium supplements, resulting in symptomatic and biochemical improvement over six months, Conclusion: Recognition of the biochemical triad—hypokalemia, hypomagnesemia, and hypocalciuria-is crucial for diagnosis of Gitelman syndrome, even without genetic testing. Early identification prevents unnecessary investigations and complications. Gitelman syndrome (GS) is a rare autosomal recessive disorder affecting the thiazide-sensitive sodium-chloride co transporter (NCC),
Gitelman syndrome (GS) is a rare autosomal recessive disorder caused by mutations in the SLC12A3 gene on chromosome 16, encoding the thiazide-sensitive Na⁺-Cl⁻ co transporter (NCC) in the distal convoluted tubule, with an estimated incidence of one in 40,000 individuals [1]. This transporter is present in the distal convoluted tubule, and it contributes to 5-10% of renal sodium reabsorption [2].The resultant defect leads to renal loss of sodium, potassium, and magnesium, accompanied by hypocalciuria and metabolic alkalosis and hyperreninemic hyperaldosteronism [3]. GS often manifests in late adolescence or adulthood, unlike Bartter syndrome, which presents earlier and with more severe salt wasting and growth retardation [4]. Clinical symptoms are usually mild to moderate, including muscle cramps, fatigue, weakness, tetany, and paresthesia, leading to delayed or misdiagnosis [5]. While genetic confirmation is the gold standard for diagnosis, in resource-limited settings, a combination of clinical features and characteristic biochemical abnormalities is sufficient for diagnosis [6]. Management is lifelong and involves oral potassium and magnesium supplementation, along with potassium-sparing diuretics such as spironolactone or amiloride [7]. We present a case series of six GS patients, diagnosed clinically and biochemically over a period of two years, describing their clinical and biochemical spectrum and highlighting the importance of recognizing this rare but treatable disorder
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