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|Title:||Liddle’s syndrome: A case report|
|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.|
|Appears in Collections:||Scopus 2011-2015|
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