Liddle’S Syndrome

The Liddle’s syndrome is a rare hereditary disorder, with an increased activity of the epithelial sodium channel (ENaC), which causes the kidneys excrete potassium but retain too much sodium and water, leading to hypertension. The symptoms are hypertension, fluid retention, metabolic alkalosis. The diagnosis is made by measuring the urine electrolytes. Potassium-sparing diuretics are the best treatment.

The Liddle syndrome is a rare autosomal dominant disorder of renal epithelial transport, clinically to a primary aldosteronism with hypertension and hypokalemic, metabolic alkalosis, but without increased Plasmarenin- or -aldosteronspiegel reminds (n. D. Red., And therefore also as referred pseudoaldosteronism). The syndrome is caused by a naturally increased activity of the epithelial sodium channels (ENaC) on the luminal membrane that accelerates the sodium reabsorption and potassium secretion (a sub activity of ENaC causes sodium excretion and potassium retention – Pseudohypoaldosteronism type I).

The Liddle’s syndrome is a rare hereditary disorder, with an increased activity of the epithelial sodium channel (ENaC), which causes the kidneys excrete potassium but retain too much sodium and water, leading to hypertension. The symptoms are hypertension, fluid retention, metabolic alkalosis. The diagnosis is made by measuring the urine electrolytes. Potassium-sparing diuretics are the best treatment. The Liddle syndrome is a rare autosomal dominant disorder of renal epithelial transport, clinically increased to a primary aldosteronism with hypertension and hypokalemic, metabolic alkalosis, but without Plasmarenin- or -aldosteronspiegel reminds (note. d. Red., and is therefore also called pseudoaldosteronism). The syndrome is caused by a naturally increased activity of the epithelial sodium channels (ENaC) on the luminal membrane that accelerates the sodium reabsorption and potassium secretion (a sub activity of ENaC causes sodium excretion and potassium retention – Pseudohypoaldosteronism type I). Patients with Liddle’s syndrome are striking with <35 years. Hypertension and symptoms and complaints of hypokalemia and metabolic alkalosis occur. Diagnostic level of sodium in the urine aldosterone Plasmarenin- and the suspected diagnosis is made by the detection of high blood pressure in a young patient, especially when a positive family history is present. Low levels of sodium in the urine (<20 mmol), low Plasmarenin- and aldosterone levels and response to empirical treatment are generally regarded as sufficient to confirm the diagnosis. A definite diagnosis can be made through a genetic test (s. GeneTests for more information). Therapy triamterene or amiloride, triamterene 100-200 mg p.o. 2 times a day and amiloride 5-20 mg p.o. are both effective 1 times a day, because they include the sodium channels. Spironolactone is ineffective. For more information GTR: Genetic Testing Registry

Health Life Media Team

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