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Gitelman Syndrome — RACP Adult Medicine MCQ

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HardNephrologyGitelman SyndromeRACP Adult Medicine

A 25-year-old woman presents with muscle weakness, metabolic alkalosis, hypokalaemia, and hypomagnesaemia. BP is 110/70 mmHg. Urine calcium is low. She is not taking diuretics. The biochemical picture mimics chronic thiazide diuretic use. What is the most likely renal tubular disorder?

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Correct answer: B — Gitelman syndrome

Metabolic alkalosis, hypokalaemia, hypomagnesaemia, hypocalciuria, and normotension mimicking thiazide use is Gitelman syndrome. It is caused by mutations in the Na-Cl cotransporter (NCC) in the distal convoluted tubule (same target as thiazides). Bartter syndrome mimics loop diuretics (hypercalciuria). Treatment is lifelong oral magnesium and potassium supplementation.

Reference: eTG Nephrology – 2024 – Tubulopathies; KDIGO 2024