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A case report of three children with secondary hypertension caused by Liddle syndrome
1Department of Pediatrics, University of Louisville, Louisville, KY, USA.
Insights
Liddle syndrome, a genetic cause of early-onset hypertension, presents with variable severity. Genetic testing identified SCNN1B mutations, leading to successful treatment with epithelial sodium channel inhibitors.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Liddle syndrome is an autosomal dominant genetic disorder causing early-onset hypertension.
- It is characterized by hypokalemia and metabolic alkalosis with variable penetrance.
Observation:
- A case report details three children with severe hypertension and electrolyte imbalances.
- Genetic testing revealed SCNN1B mutations, confirming Liddle syndrome.
Findings:
- The identified SCNN1B mutation is consistent with Liddle syndrome.
- Treatment with epithelial sodium channel inhibitors improved blood pressure in affected children.
Implications:
- Prompt diagnosis of Liddle syndrome is crucial for preventing severe cardiovascular complications.
- Understanding variable penetrance is key to managing hypertension and electrolyte disturbances.
Background:
Liddle syndrome is a monogenetic cause of early-onset hypertension that is associated with hypokalemia and metabolic alkalosis that is inherited in an autosomal dominant fashion with variable penetrance.
Case Presentation:
We present a case report of three children seen at a tertiary children's hospital with varying severity of hypertension and electrolyte disturbances, who had genetic testing performed due to strong family history of hypertension. They were each subsequently found with the same genetic mutation of SCNN1B consistent with Liddle syndrome and started on epithelial sodium channel inhibitors with improvement in their blood pressure.
Conclusion:
Due to its variable penetrance, Liddle syndrome can have varying severity of blood pressure and electrolyte disturbances. Prompt recognition of Liddle syndrome is important to prevent cardiovascular complications from uncontrolled hypertension.
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