Sodium Liddle syndrome

The major disease clearly linked with disordered sodium homeostasis, among other diseases, is hypertension, and this is observed in very small populations with genetic defects including glucocorticoid-responsive aldosteronism, Liddle syndrome, and apparent mineralocorticoid excess (AME) (Anke 2002). Cystic fibrosis is another genetically determined defect in the chloride channels. This leads to the secretion of sweat with high NaCl concen-... 

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. 

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. 

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... 

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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