From the Research
Liddle syndrome typically occurs in childhood or adolescence, unlike Gitelman syndrome which can manifest in adulthood. Liddle syndrome is a rare autosomal dominant genetic disorder characterized by early-onset hypertension, hypokalemia (low potassium levels), metabolic alkalosis, and suppressed plasma renin activity with low aldosterone levels. The condition results from mutations in the epithelial sodium channel (ENaC) genes, specifically SCNN1B and SCNN1G, which lead to constitutive activation of these channels in the distal nephron, causing excessive sodium reabsorption and potassium excretion.
Key Characteristics of Liddle Syndrome
- Early-onset hypertension
- Hypokalemia
- Metabolic alkalosis
- Suppressed plasma renin activity with low aldosterone levels Treatment typically involves potassium-sparing diuretics like amiloride or triamterene (at standard doses adjusted for age and weight), which directly block these overactive sodium channels, rather than traditional antihypertensives or spironolactone which would be ineffective due to the already low aldosterone levels, as supported by the most recent study 1. Patients require lifelong treatment and regular monitoring of blood pressure and electrolytes, as untreated Liddle syndrome can lead to severe hypertension and associated cardiovascular complications at a young age. The clinical phenotypes of LS are variable and nonspecific, making it prone to both misdiagnosis and missed diagnosis, highlighting the importance of genetic analysis for confirmation, as noted in 1.