Liddle syndrome

Also known as: Pseudoaldosteronism

Autosomal dominant hypertension with hypokalemia and low renin and aldosterone.

Medical specialty: Cardiology
Subspecialty: Cardiology / Endocrine hypertension
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, early onset
Gene(s) involved: SCNN1A, SCNN1B, SCNN1G

Etiology & mechanism

Gain of function of the epithelial sodium channel increases sodium reabsorption.

Gene(s) involved (3)

SCNN1ASCNN1BSCNN1G

Symptoms & signs (6)

early-onset hypertensionhypokalemialow aldosteronelow reninmetabolic alkalosismuscle weakness

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.