Nephrology

Answer 3 Liddle’s syndrome. The diagnosis of Liddle’s syndrome, a genetic disorder caused by an activating mutation of the epithelial sodium channel in the principal cell, is supported by the early onset of hypertension and severe hypokalemia in the presence of low renin and aldosterone levels. Identification of secondary causes of hypertension requires recognition of clinical clues such as severe hypokalemia, metabolic alkalosis, and hypertension at a young age. In this particular case, the hypertensive syndromes associated with hypokalemia and metabolic alkalosis should be recognized and distinguished on the basis of both serum and laboratory studies. Fibromuscular dysplasia of the renal arteries is excluded from the diagnosis by the absence of an abdominal bruit, the low plasma renin activity, and the low aldosterone concentrations. Hyperaldosteronism from either an adrenal adenoma or glucocorticoid remediable aldosteronism is excluded from the diagnosis based on the low levels of aldosterone in the blood and urine. Click here to return to the questions

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