Liddle syndrome (pseudoaldosteronism and differential diagnoses) [11 genes]

Liddle syndrome is an autosomal dominant form of pseudoaldosteronism characterized by hypertension, hypokalemia, metabolic alkalosis, and renin-angiotensin-aldosterone system inhibition. This disorder is caused by defects in the subunits that constitute the epithelial sodium channel (ENaC). Some of the implicated genes can also cause pseudohypoaldosteronism type II, possibly due to the effect of genetic variants, which is why this panel also includes genes associated with the development of this disease.

• Unknown
• An estimated 6% of individuals with similar biochemistry could have Liddle syndrome

Identifying genetic variants causing Liddle syndrome allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when Liddle syndrome is suspected, which may include the following clinical characteristics:

• Secondary hypertension
• Hypokalemic metabolic alkalosis
• Myalgia
• Early onset (childhood)