Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent.

ABSTRACT:

Objective

Liddle syndrome (LS) is a rare autosomal dominant condition secondary to a gain-of-function mutation affecting the epithelial sodium channels (ENaCs) in the distal nephron. It presents with early-onset hypertension, hypokalemia, and metabolic alkalosis in the face of hyporeninemia and hypoaldosteronism. We report a novel mutation affecting the ENaCs in a normotensive adolescent with LS.

Methods

We describe a pediatric case of LS with a novel mutation and review the condition's presentation and management. To date, 31 different mutations in the β- or γ-subunit of ENaCs have been reported as associated with LS.

Results

We describe a 16-year-old girl presenting with muscle cramps with a strong family history of hypertension and hypokalemia. Initial investigatio

SUBMITTER: Brower RK 

PROVIDER: S-EPMC7924163 | biostudies-literature | 2021 Jan-Feb

REPOSITORIES: biostudies-literature