Clinical Features of Liddle Syndrome with Hypertension and Hypokalemia

 

Inheritance: autosomal dominant

 

Mechanism: defect in apical sodium transport associated with a mutation in one of the 3 subunits (alpha, beta, gamma).

 

Clinical features:

(1) early onset hypertension affecting multiple family members

(2) usually with hypokalemia but sometimes with normokalemia

(3) plasma rennin and aldosterone levels are low

(4) clinical response to triamterene and other inhibitors of epithelial sodium transport

(5) lack of response to spironolactone and other mineralocorticoid receptor antagonists