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Liddle's Syndrome: A Case Report.
Summary
This study identifies a novel mutation in the SCNN1B gene causing Liddle's syndrome (LS) in a Thai patient. Genetic confirmation is crucial for managing this rare inherited hypertension disorder.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Liddle's syndrome (LS) is a rare autosomal dominant disorder characterized by severe hypertension, hypokalemia, and metabolic alkalosis.
- It results from mutations in genes encoding subunits of the epithelial sodium channel (ENaC).
Observation:
- A 38-year-old female presented with proximal muscle weakness, severe hypertension, and persistent kaliuresis despite hypokalemia.
- Hyporeninemic hypoaldosteronism was detected after serum potassium normalization.
Findings:
- Pedigree analysis suggested an autosomal dominant inheritance pattern.
- A novel frameshift mutation (SCNN1B NM_000336.2:c.1724_1730dupGGCCCAC [p.Pro575Argfs*17]) in the SCNN1B gene was identified as the cause of LS.
- This represents a rare genetic cause of hypertension in Thailand.
Implications:
- Accurate diagnosis of Liddle's syndrome requires genetic confirmation.
- Early and correct diagnosis facilitates appropriate management strategies for this rare condition.
- Highlights the importance of genetic testing in diagnosing rare inherited diseases.
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