2024年3月1日 · Liddle syndrome is one of the rare causes of resistant hypertension that usually presents in early childhood, but some are not detected until well into adulthood. First explained by Grant Liddle et al in 1963, this syndrome is characterized by a primary increase in the collecting tubule of sodium reabsorption and potassium secretion.

Liddle’s syndrome, also known as pseudohyperaldosteronism is a rare, autosomal dominant, cause of secondary hypertension. Liddle’s syndrome mimics the symptoms of mineralocorticoid excess, causing hypokalemia, hypertension, and metabolic alkalosis, but with suppressed aldosterone and renin levels.

2022年1月28日 · In patients with Liddle syndrome, aldosterone levels are low, and so inhibiting aldosterone’s action with spironolactone has little effect. In fact, the lack of response to spironolactone was a feature identified by Grant Liddle in his initial description of Liddle syndrome.

Primary hyperaldosteronism (also known as Conn's syndrome), is due to an aldosterone-secreting adrenal tumor or adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.

Liddle’s syndrome is characterized by hypertension in the setting of hypokalemic metabolic alkalosis. Clinically these patients resemble those with primary hyperaldosteronism. However, the hallmark of this disorder is the finding of markedly suppressed serum aldosterone levels and the lack of response to administration of the ...

Among these diseases, Liddle syndrome (LS) is caused by point mutations of the epithelial sodium channel (ENaC), that cause renal aldosterone-independent sodium reabsorption. The aim of this review is to provide an update on the current knowledge of LS, including the genetic and pathophysiological basis, the clinical features, the diagnostic ...

2019年9月3日 · Liddle's syndrome is a genetic disorder characterized by hypertension with hypokalemic metabolic alkalosis, hyporeninemia and suppressed aldosterone secretion that often appears early in life. It results from inappropriately elevated sodium reabsorption in …

Liddle syndrome is a rare autosomal dominant disorder of renal epithelial transport that clinically resembles primary aldosteronism, with hypertension and hypokalemic metabolic alkalosis and with low plasma renin and aldosterone levels. The syndrome results from an inherently increased activity of the epithelial sodium channels (ENaC), located ...

2024年5月1日 · Liddle syndrome is a rare autosomal dominant disorder caused by gain-of-function mutations in genes encoding ENaC subunits. Symptoms include the triad of early-onset hypertension, hypokalemia, and metabolic alkalosis. Normal-to-low aldosterone activity and lack of response to spironolactone distinguish this condition from hyperaldosteronism.

Clinically, Liddle syndrome is characterized by, among others, the triad of hypertension, hypokalemia, and metabolic alkalosis that develop at a relatively young age and by consistently low PRA and PAC levels. In our series, all but one patient had onset of disease at adolescence.