Liddle’s syndrome

Liddle s syndrome is an autosomal dominant disorder that is caused by persistent hyperactivity of the epithelial Na channel. Its symptoms mimic aldosterone excess, but plasma aldosterone levels are actually reduced (pseudoaldosteronism). The disease is characterized by early onset arterial hypertension, hypokalemia, and metabolic alkalosis. 

Disease-causing mutations are found in the cytoplasmic regulatory region of the (3 and y subunits of the epithelial sodium channel (ENaC) genes. In general, patients with Liddle s syndrome can be treated successfully with the ENaC inhibitor amiloride. 

Example, Bartter s or Gitelman s syndrome, Cushing s syndrome, hyperaldosteronism (1° or 2°), and Liddle s syndrome... 

Staub, O., S. Dho, P. Henry, J. Correa, T. Ishikawa, J. McGlade, and D. Rotin. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle s syndrome. Embo J. 15 2371-80.1996. 

Corvol, P. (1995). Liddle s syndrome heritable human hypertension caused by mutations in the Beta subunit of the epithelial sodium channel. J. Endocrinol. Invest., 18(7), 592-594. 

Pseudoaldosteronism (Liddle s syndrome) Na+ channel defect SCNN1BSCNN1G 16pl3-pl2 16pl3-pl2 600760 600761(177200)... 

Liddle s syndrome is an autosomal dominant form of hypertension. It is a disorder of the renal epithelial sodium channel, which has three subunits, a, j, and y, and mutations within the first two are associated with increased sodium channel activity [7, 36]. This causes excessive sodium absorption in the distal nephron of the kidney. It gives rise to hypoglycemia, low -renin, and low aldosterone. 

Botero-Velez M, Curtis JJ, Warnock DG (1994) Liddle s syndrome revisited - a disorder of sodium reabsorption in the distal tubule. N Engl J Med 330 178-181... 

SCNNIB/G 16pl2.2-pl2.1 ENaC Liddle s syndrome D Gain... 

Other unusual conditions that suggest aldosterone excess or deficiency but are not connected to the renin-angiotensin-aldosterone system include Liddle s syndrome (pseudo hyper aldosteronism),which resembles primary aldosteronism clinically, but aldosterone production is low and hypertension is absent and Barttefs syndrome,which involves a prostaglandin-mediated renal potassium wasting and renal chloride handling defect, in which both aldosterone concentrations and renin activities are elevated. In renal tubular acidosis and pseudohypoaldosteronism, the clinical picture of hypoaldosteronism is seen concurrent with greater-than-normal concentrations of aldosterone. 

Excess mineralocorticoid activity Hyperaldosteronism Cushing s syndrome Bartter s syndrome Gitelman s syndrome Excessive black licorice intake Profound potassium depletion Magnesium deficiency Liddle s syndrome Unclassified Alkali administration Milk-alkali syndrome... 

Periodic paralysis LQT syndrome and other arrhythmias Hypertension (Liddle s syndrome) or Hypotension... 

Triamterene is usefui in combination with a thiazide or loop diuretic in the treatment of edema or hypertension. Liddle s syndrome also may be treated with a sodium channel blocking drug, such as triamterene. Triamterene is administered initially in doses of 100 mg twice a day. A maintenance dose for each patient should be individually determined. This dose may vary from 100 mg a day to as low as 100 mg every other day. 

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