Liddle+Syndrome

Anny Sigaran

Liddle Syndrome

Liddle Syndrome, also known as pseudoaldosteronism. Liddle syndrome is an autosomal dominant disorder, it is a rare inherited form of high blood pressure (hypertension). It is associated with hypokalemic metabolic alkalosis, low plasma renin activity, and suppressed aldosterone secretion. The affected cells are epithelial cell. These cells are found in many tissues of the body including the kidneys, sweat glands, and lungs. Liddle’s syndrome, as its name dictates, was discovered by Doctor Henry Liddle in 1963. Not many people are diagnosed with Liddle syndrome since it is a very uncommon disease. The typical presentation of patients with Liddle syndrome includes early-onset severe hypertension, hypokalemia, metabolic alkalosis in the setting of low plasma renin and aldosterone, low rates of urinary aldosterone excretion, and a family history of hypertension. Hypokalemia and metabolic alkalosis develop in response to reabsorption of cationic sodium in the absence of an anion. This creates a lumen-negative electrical gradient, which promotes secretion of potassium and hydrogen ions into the collecting tubule. In untreated patients, cardiovascular complications are common.



Figure 1 explains the renin angiotensin aldosterone system which is the signaling pathway responsible for regulating blood pressure. Renin is the enzyme released by the kidneys after the signal is sent, renin splits the protein angiotensinogen which produces angiotensin I then it is converted by another enzyme into angiotensin II. Angiotensin II is what stimulates aldosterone secretion. In liddle syndrome patients, the region that signal sent from the kidneys is, which leads to the lack of aldosterone secretion.

Common symptoms are fatigue, anxiety, depression, muscle weakness and pain, hypertension,low renin levels, low blood potassium levels, reduction in aldosterone secretion, heart palpitations, shortness of breath, constipation, decreased exercise tolerance, abdominal bloating, and metabolic acidosis. The standard treatments are antidepressants, low salt diet, potassium-sparing diuretic that directly blocks the sodium channel, and lorazepam or clonazepam to treat the weakness and pain. Current research provides a more profound analysis of the possible causes of the disease besides the genetic contraction. In this research they offer mechanism and genetics testing of the disease.

Yang, Kun-Qi, et al. "Molecular Genetics Of Liddle's Syndrome." Clinica Chimica Acta (2014): 202. Academic OneFile. Web. 5 Oct. 2014

Wang, Lin-ping, et al. "Genetic Diagnosis Of Liddle's Syndrome By Mutation Analysis Of SCNN1B And SCNN1G In A Chinese Family." Chinese Medical Journal 125.8 (2012): 1401-1404. MEDLINE with Full Text. Web. 5 Oct. 2014.

Yang, Kun-Qi, et al. "Molecular Genetics Of Liddle's Syndrome." Clinica Chimica Acta (2014): 202. Academic OneFile. Web. 5 Oct. 2014.