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Gitelman Syndrome — ESENeph MCQ

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HardTubular DisordersGitelman SyndromeESENeph

A 45-year-old man is investigated for persistent hypokalaemia (K+ 2.8 mmol/L), metabolic alkalosis (bicarbonate 32 mmol/L), and low-normal blood pressure. Serum magnesium is low at 0.5 mmol/L. Urinary calcium is low. Renin and aldosterone are elevated. What is the most likely diagnosis?

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Correct answer: A — Gitelman syndrome

Gitelman syndrome presents in adults with hypokalaemic metabolic alkalosis, hypomagnesaemia, and hypocalciuria (low urinary calcium). Bartter syndrome presents similarly but typically in childhood with normal or high urinary calcium and is more severe. Liddle syndrome causes hypertension with hypokalaemia and low renin/low aldosterone. Conn syndrome causes hypertension with hypokalaemia and high aldosterone but low renin. The low urinary calcium is the key distinguishing feature of Gitelman from Bartter.

Reference: https://guidelines.ukkidney.org