Liddle Syndrome: Review of the Literature and Description of a New Case.

Abstract excerpt

Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na⁺ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The...

Topics

• Adolescent
• Epithelial Sodium Channels
• Humans
• Liddle Syndrome
• Male
• Mutation, Missense
• Phenotype