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

Case1: A 62 years old female was admitted to DRPGMC Kangra at Tanda Tertiary care hospital Himachal Pradesh on 08/06/25 with complaints of tightening and twisting of hands and feet for two days. These episodes were intermittent, painful and lasting for several minutes. History of numbness and tingling sensation of extremities and perioral region which usually proceeded these involuntary movements. H/O generalized fatiguitability and nausea.  She was hypertensive for 6 years and was on amlodipine 5 mg. No other co morbidities noted. She denied any form of self-medication, surreptitious diuretic and laxative abuse. There was no history of persistent vomiting, diarrhea, chest pains and exacerbation of weakness by exertion or after heavy carbohydrate meal. Family history was unremarkable. After four days of hospital admission, she developed carpal spasm and increased generalized weakness. On examination, she was clinically euvolemic with normal skin turgor and no peripheral edema. Carpal spasm was present with positive trousseaus and Chvostek’s sign. The blood pressure was 118/74 mmHg and pulse rate was 82/ minute. Nervous system, Respiratory, Cardiovascular system was within normal limits. ECG showed prolong QT interval with hypokalemic changes.

Laboratory investigations: showed low serum potassium (2.4 1meq/L), sodium (131 meq), chloride (85 meq/L), magnesium (1.0 mmol/L) and calcium (4.65 mg/dl). Serum bicarbonate was 28 meq/L while serum urea and creatinine were 21 mg/ dl and 0.8 mg/ dl respectively. Blood pH was 7.51. The urinary calcium was subnormal at 17 mg/24 hour . LFT, IPTH, Vit.D3 and B12 levels within normal limits. Seorology for HBsAg, HVC and HIV ElISA negative. Urine routine, c/s and for ketone bodies negative. Patient was managed by injectable calcium, MgSO4 and inj.Kcl followed by oral calcium, magnessium, and  syp. potchlor. After treatment patient became asymptomatic.

Trousseaus sign tetany      Prolonged QT interval due to hypokalmia

Case 2: A 34-year-old male presented with one year of recurrent muscle cramps, generalized weakness, and easy fatigability. She denied vomiting, diarrhea, or use of diuretics. Blood pressure was 100/70 mmHg. Investigations revealed serum potassium 2.4 mmol/L, magnesium 1.1 mg/dL, bicarbonate 33 mEq/L, and urinary calcium excretion markedly reduced. Plasma renin and aldosterone were elevated. ECG showed prominent U waves. She was diagnosed with Gitelman syndrome and treated with oral potassium chloride, magnesium oxide, and spironolactone. Her symptoms improved within two weeks.

Case 3 A 28-year-old man presented with six months of fatigue and tingling in both hands and feet. She had no gastrointestinal losses or drug use. Blood pressure was 94/60 mmHg. Serum potassium was 2.7 mmol/L, magnesium 1.3 mg/dL, and bicarbonate 30 mEq/L. Urinary calcium was low. She was treated with potassium and magnesium supplements along with spirinolactone25 mg daily. Symptoms improved, and serum potassium normalized to 3.5 mmol/L at follow-up.

 Case 4 A 30-year-old male presented with episodic muscle weakness for two years. He was normotensive (110/70 mmHg) and had no history of vomiting or laxative use. Laboratory tests showed potassium 2.5 mmol/L, magnesium 1.0 mg/dL, and metabolic alkalosis. Urinary calcium excretion was low, and renin–aldosterone levels were raised. ECG revealed U waves. He was started on potassium and magnesium replacement along with spirinolactone. His symptoms resolved, and serum potassium improved to 3.8 mmol/L.

Case 5.  A 35-year-old male presented with recurrent episodes of carpopedal spasm and perioral numbness for one year. There was no history of gastrointestinal fluid loss. BP was 95/60 mmHg. Investigations: potassium 2.8 mmol/L, magnesium 1.4 mg/dL, bicarbonate 34 mEq/L, and urinary calcium excretion low. QT interval was prolonged on ECG. She was diagnosed as Gitelman syndrome and managed with magnesium and potassium supplementation. The spasms subsided with correction of electrolytes. 

Case 6 A 49-year-old female presented with muscle aches, weakness and not able to lift her head and unable to stand on her own for 5 days. There was no history suggestive of sensory pathway involvement. There was no cranial nerves invovement and urinary and bowel habit was normal. BP was 105/65 mmHg. Serum potassium 2.3 mmol/L, magnesium 1.2 mg/dL, bicarbonate 32 mEq/L, urinary calcium excretion low, renin and aldosterone elevated. He was started on oral potassium and magnesium, with spirinolatone added later. Her symptoms improved and serum potassium stabilized at 3.6 mmol/L.

Parameter Case 1 Case 2 Case 3 Case 4 Case 5 Case 6

Age/Sex                   62/F      34/F       28/M    30/F    35/M     49/F

BP (mmHg)             118/74  100/70    94/60   95/60   96/60     105/65

Serum K⁺ (mmol/L)  2.4         2.7         2.5        2.8       2.3         2.3

SerumMg²⁺ (mg/dL) 1.1         1.3          1.0       1.4        1.2        1.2

Serum HCO₃(mEq/L) 33        30            31        34         32          32

PH(Arterial blood)   7.51     7.48         7.51     7.47      7.49        7.49

Urinary Calcium          ↓           ↓           ↓             ↓           ↓            ↓

Renin / Aldosterone     ↑            ↑          ↑             ↑             ↑            ↑

 ECG Findings     U waves  U waves U waves QT prolongation U waves Normal Genetic Test           Not available

CBC, ESR,CRP, RFT, LFT, TFT, FBS, HbA1C, Urine for routine and microscopic test were within normal limit. Vit. B12 and D3 had normal study.

Gitelman syndrome is a rare, under diagnosed autosomal recessive tubulopathy. The prevalence is estimated at 1:40,000 in the general population [8]. The classical biochemical triad-hypokalemia, metabolic alkalosis, and hypomagnesemia with hypocalciuria-helps differentiate it from Bartter syndrome, which usually presents in infancy or early childhood with polyuria,  polydipsia, growth retardation, and nephrocalcinosis [9]. Clinical Spectrum in our series patients was predominantly muscle weakness, fatigue, cramps, and paresthesias, consistent with prior reports [10,11]. Tetany and carpopedal spasm were clinically significant in one female patient, who presented to us with tetany complaints only. The hypertensive female had well-controlled blood pressure, which did not mask the diagnosis. All patients demonstrated severe hypokalemia and hypomagnesemia, with secondary hyperaldosteronism (elevated plasma renin and aldosterone). Hypocalciuria was observed in all patients, which is a hallmark of GS [12]. These laboratory features are critical for clinical diagnosis in settings where genetic testing is unavailable [13]. Hypokalemia in GS is often refractory to potassium supplementation alone due to concomitant magnesium loss, which impairs renal potassium reabsorption [14]. Hence, dual supplementation with magnesium is essential. All patients responded well to spironolactone therapy combined with oral electrolytes, similar to other published series [15]. Lifelong  supplementation of potassium and magnesium. Potassium-sparing diuretics such as spironolactone, amiloride, or eplerenone reduce renal potassium loss and improve serum levels. Spironolactone, a potassium-sparing diuretic, blocks aldosterone-mediated renal potassium loss, thereby aiding correction of hypokalemia.  Regular monitoring is necessary to prevent complications such as QT prolongation, arrhythmias, or chondrocalcinosis due to chronic  hypomagnesemia. Though genetic testing confirms the diagnosis, resource constraints often limit its availability. Diagnosis in most clinical settings, including our study, relies on the characteristic biochemical profile. Previous Indian studies, including that by Previous studies report variable age of onset, usually adolescence or early adulthood, and a higher prevalence in females [8,10]. Our series aligns with these findings. The late diagnosis is common due to mild symptoms and lack of awareness among clinicians symptomatic improvement and electrolyte stability.

Gitelman syndrome should be suspected in young adults presenting with unexplained hypokalemia and metabolic alkalosis, particularly in the presence of hypomagnesemia and hypocalciuria. Early recognition, oral potassium and magnesium supplementation, and potassium-sparing diuretics such as spironolactone can prevent complications, improve symptoms, and enhance quality of life. In resource-limited settings, a clinical and biochemical diagnosis is sufficient to guide effective management.

• Small sample size: Only six patients.
• No genetic confirmation due to lack of facilities.

 • Short follow-up: Only six months; long-term outcomes not assessed.

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