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: Meta Phoojaroenchanachai, Peera Buranakitjaroen, Chanin Limwongse
• Journal: Journal of the Medical Association of Thailand = Chotmaihet thangphaet (J Med Assoc Thai) Vol. 98 Issue 10 Pg. 1035-40 (Oct 2015) ISSN: 0125-2208 [Print] Thailand
• PMID: 26638596 (Publication Type: Case Reports, Journal Article)

Chemical References

• Epithelial Sodium Channels
• SCNN1B protein, human

Topics

• Adult
• Base Sequence
• DNA Mutational Analysis
• Epithelial Sodium Channels (genetics)
• Female
• Humans
• Liddle Syndrome (genetics)
• Mutation
• Pedigree
• Sequence Analysis, DNA (methods)
• Sequence Deletion