A Rare Case of Liddle Syndrome Due To A Novel Mutation in A Normotensive Adult

Abstract Liddle syndrome (pseudoaldosteronism) is a genetically heterogenous autosomal dominant disorder. The key clinical characteristics of this syndrome are early onset salt-sensitive hypertension with hypokalemia, metabolic alkalosis, inhibition of renin activity and aldosterone secretion. Liddle syndrome is caused by mutations (missense or frameshift) in the genes of epithelial sodium channel (ENaC) subunits namely SCNN1A, SCNN1B or SCNN1G genes. A normotensive adult diabetic male with CKD presenting with hypokalemic paralysis, was found to have Liddle syndrome after ruling out commoner causes. The genetic analysis revealed a novel mutation in α subunit of ENaC. This is likely the second SCNN1A mutation identified after the description of one case of germ line mutation in the α subunit in a Caucasian family affected by Liddle syndrome by Salih M.