Liddle's Syndrome Revisited -- A Disorder of Sodium Reabsorption in the Distal Tubule

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Abstract
In 1963 Liddle et al.1 described a disorder that simulated primary aldosteronism, characterized by severe hypertension and hypokalemia but with negligible secretion of aldosterone. They theorized that this was “a disorder in which the renal tubules transport ions with such abnormal facility that the end result simulates that of a mineralocorticoid excess.” We describe a woman with this syndrome (the index case1) in whom renal failure eventually developed and who received a cadaveric renal transplant at our institution in 1989. Her disorder resolved after transplantation, with normalization of the aldosterone and renin responses to salt restriction. The woman's extended pedigree demonstrates autosomal dominant inheritance of severe hypertension and suppressed aldosterone secretion, but hypokalemia is not a constant finding in the affected members of the family.