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Title: Liddle’s syndrome: A case report
Authors: Meta Phoojaroenchanachai
Peera Buranakitjaroen
Chanin Limwongse
Mahidol University
Keywords: Medicine
Issue Date: 1-Jan-2015
Citation: Journal of the Medical Association of Thailand. Vol.98, No.10 (2015), 1035-1040
Abstract: © 2015, Medical Association of Thailand. All rights reserved. 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.1724_1730dupGGCCCAC [p.Pro575Argfs*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.
ISSN: 01252208
Appears in Collections:Scopus 2011-2015

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