Gitelman’s Syndrome: A rare inherited tubulopathy of the distal convoluted tubule, caused by mutations affecting the thiazide-sensitive NaCl cotransporter (SLC12A3 gene).
Often described as a “benign Bartter’s variant” but has key biochemical differences.
Autosomal recessive inheritance → manifests usually in late childhood or adulthood.

Clinical Features 👩‍⚕️

💤 Chronic fatigue, weakness, and muscle cramps due to electrolyte imbalance.
🌙 Nocturia and polyuria (salt wasting leads to impaired concentrating ability).
📉 Hypotension or low–normal blood pressure (despite RAAS activation).
Symptoms often milder than Bartter’s and sometimes discovered incidentally on blood tests.

Investigations 🔬

Hypokalaemia 🟡: Potassium loss → muscle weakness, cramps, arrhythmia risk.
Metabolic Alkalosis 🧪: Due to renal hydrogen ion loss.
Salt Wasting 🧂: Renal sodium loss → mild volume depletion.
Hypomagnesaemia 🔵: Characteristic and often symptomatic (tremors, cramps).
Urinary Chloride ↑: Consistently high, differentiates from surreptitious diuretic use.
Calcium: Unlike Bartter’s, Gitelman’s is associated with hypocalciuria (↓ urinary calcium).

Key Differentiation 🆚 Bartter’s

Bartter’s: Presents earlier in life, with hypercalciuria and often nephrocalcinosis.
Gitelman’s: Later onset, with hypocalciuria and prominent hypomagnesaemia.

Management ⚕️

💊 Electrolyte Replacement: Oral potassium and magnesium supplements are cornerstone therapy.
🥤 Liberal salt intake to counteract chronic salt wasting.
🛡️ Potassium-sparing agents: Spironolactone, eplerenone, or amiloride to reduce renal K⁺ loss.
🚫 NSAIDs: Unlike Bartter’s syndrome, NSAIDs are not useful in Gitelman’s.

Clinical Pearl 💡

Think of Gitelman’s in a young adult with chronic cramps, fatigue, hypokalaemia, and low urinary calcium. 🔑 “Hypo-K, Hypo-Mg, Hypocalciuria” = Gitelman’s.

Cases — Gitelman’s Syndrome

Case 1 — Adolescent with cramps 👦: A 15-year-old boy presents with recurrent muscle cramps, fatigue, and occasional dizziness. Exam: normal blood pressure. Bloods: hypokalaemia, hypomagnesaemia, metabolic alkalosis, low urinary calcium. Diagnosis: Gitelman’s syndrome (salt-losing tubulopathy). Managed with oral potassium and magnesium supplementation.
Case 2 — Young adult with incidental labs 🧪: A 22-year-old woman is found to have persistent hypokalaemia during work-up for fatigue. She denies diuretic use. BP: 105/70 mmHg. Bloods: low potassium, low magnesium, metabolic alkalosis. Urine: low calcium excretion. Genetic testing confirms SLC12A3 mutation. Managed with electrolyte replacement and dietary salt liberalisation.
Case 3 — Pregnancy complication 🤰: A 28-year-old woman at 24 weeks’ gestation reports paraesthesia and palpitations. ECG: U-waves consistent with hypokalaemia. Labs: hypokalaemia, hypomagnesaemia. She is normotensive, with past history of Gitelman’s. Diagnosis: exacerbation of Gitelman’s syndrome in pregnancy. Managed with aggressive potassium/magnesium supplementation and obstetric–renal team follow-up.

Teaching Point 🩺: Gitelman’s syndrome is a rare autosomal recessive defect of the distal convoluted tubule, mimicking thiazide diuretic use. It causes hypokalaemia, hypomagnesaemia, metabolic alkalosis, and hypocalciuria. Unlike Bartter’s, it presents later (adolescence/adulthood) and is generally milder, but symptoms worsen in stress (e.g. pregnancy).

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Gitelman's syndrome

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