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Liddle syndrome presenting with normal aldosterone levels: A case report
Rongrong Wang1, Yan Zhang, Runzhou Pan
1Cangzhou Central Hospital, Cangzhou, Hebei, China.
Medicine
|November 28, 2023
Summary
Liddle syndrome, a genetic disorder causing hypertension and hypokalemia, can mimic primary aldosteronism. Genetic testing is crucial for accurate diagnosis and effective treatment with triamterene.
Area of Science:
- Endocrinology
- Genetics
- Nephrology
Background:
- Liddle syndrome is an autosomal dominant disorder presenting with hypertension, hypokalemia, low aldosterone, and reduced renin.
- Atypical Liddle syndrome often mimics hyperaldosteronism, leading to potential misdiagnosis.
Observation:
- A patient initially diagnosed with primary aldosteronism underwent adrenalectomy but experienced persistent, uncontrolled hypertension and hypokalemia.
- The patient also suffered an acute cerebral infarction following the misdiagnosis and ineffective treatment.
Findings:
- Genetic testing revealed a frameshift mutation (c.1789dupC) in the SCN1B gene, confirming Liddle syndrome.
- Treatment with a low-sodium diet and triamterene normalized serum potassium and controlled blood pressure.
Implications:
- Normal aldosterone levels do not exclude Liddle syndrome; genetic testing is essential for definitive diagnosis.
- Ineffectiveness of spironolactone in apparent primary aldosteronism warrants investigation for alternative conditions like Liddle syndrome.
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