Liddle’s Syndrome: A Case Report
Meta Phoojaroenchanachai MD*,
Peera Buranakitjaroen MD, D.Phil*, Chanin Limwongse MD**
Affiliation :
* Division of Hypertension, Department of Medicine, Faculty of Medicine Siriraj Hospital,
Mahidol University, Bangkok, Thailand
** Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital,
Mahidol University, Bangkok, Thailand
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.
Keywords : Liddle’s syndrome, Hypokalemia and hypertension
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