title: Liddle's Syndrome: A Case Report.
abstract: A thirty-eight years old female presented with frequent proximal weakness, severe hypertension, and persistent kaliuresis despite hypokalemia. After normalized serum potassium level, hyporeninemic hypoaldosteronism was detected Pedigree study supported an autosomal dominant inherited disease. A causative mutation for Liddle's syndrome (LS) in this patient was identified to be a novel frameshift mutation. DNA sequencing resulted in exon 13 of SCNN1B gene: SCNN1B NM_000336.2:c.1 724_1730dupGGCCCAC [p.Pro5 75Argfs*17]. Since LS is a rare existing clinical syndrome in Thailand, correct diagnosis should be confirmed by genetic studies. Therefore, proper management could be given.
authors.forename: Meta
authors.initials: M
authors.lastname: Phoojaroenchanachai
authors.forename: Peera
authors.initials: P
authors.lastname: Buranakitjaroen
authors.forename: Chanin
authors.initials: C
authors.lastname: Limwongse
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D053503:Epithelial Sodium Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D056929:Liddle Syndrome / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000379:methods; D017384:Sequence Deletion
chemical_list: D053503:Epithelial Sodium Channels; C507048:SCNN1B protein, human