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Gitelman syndrome — ESENeph MCQ

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HardAcute Kidney Injury, Electrolytes and Acid-BaseGitelman syndromeESENeph

A 26-year-old woman has cramps and recurrent tetany. Blood pressure is 102/64 mmHg; potassium is 2.8 mmol/L, bicarbonate 33 mmol/L and magnesium 0.47 mmol/L. Urinary calcium excretion is low and renin and aldosterone are raised. What is the most likely diagnosis?

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Correct answer: D — Gitelman syndrome

Hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria is typical of Gitelman syndrome. Bartter syndrome more often causes hypercalciuria and presents earlier in life. Liddle syndrome causes hypertension with suppressed renin and aldosterone. The pearl is that inherited salt-wasting tubulopathies mimic chronic diuretic exposure, so urinary calcium and magnesium help separate the syndromes.

Reference: https://guidelines.ukkidney.org