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Liddle Syndrome

By James I. McMillan, MD

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Liddle syndrome is a rare hereditary disorder involving increased activity of the epithelial sodium channel (ENaC) which causes the kidneys to excrete potassium but retain too much sodium and water, leading to hypertension. Symptoms are of hypertension, fluid retention, and metabolic alkalosis. Diagnosis is through measurement of urinary electrolytes. Potassium-sparing diuretics provide the best treatment.

Liddle syndrome is a rare autosomal dominant disorder of renal epithelial transport that clinically resembles primary aldosteronism, with hypertension and hypokalemic metabolic alkalosis and with low plasma renin and aldosterone levels. The syndrome results from an inherently increased activity of the epithelial sodium channels (ENaC), located on the luminal membrane in the collecting tubule, which accelerates sodium resorption and potassium secretion (underactivity of ENaC causes sodium excretion and potassium retention—see Pseudohypoaldosteronism Type I ).

Patients with Liddle syndrome present at age < 35 yr. Hypertension and symptoms and signs of hypokalemia and metabolic alkalosis occur.

Diagnosis

  • Urine sodium level

  • Plasma renin and aldosterone levels

Diagnosis is suggested by the presence of hypertension in a young patient, particularly one with a positive family history. Low urine sodium (< 20 mEq), low plasma renin and aldosterone levels, and response to empiric treatment usually are considered sufficient to confirm the diagnosis. Definitive diagnosis can be achieved through genetic testing (see GeneTests for more information).

Treatment

  • Triamterene or amiloride

Triamterene 100 to 200 mg po bid and amiloride 5 to 20 mg po once/day are both effective because they close sodium channels. Spironolactone is ineffective.

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* This is the Professional Version. *