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Liddle's Syndrome
Danish Abdul Aziz1, Fozia Memon1, Arshalooz Rahman1
1Department of Paediatrics, Aga Khan University Hospital Karachi, Pakistan.
Insights
Pediatric hypertension often has a known cause, but this case highlights Liddle's syndrome, a rare genetic form. Early diagnosis and treatment of this monogenic hypertension are vital to prevent serious complications in children.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Endocrinology
Background:
- Hypertension in children is frequently secondary to identifiable causes.
- Prompt identification and management of pediatric hypertension are essential to prevent long-term complications and mortality.
- Recognizing specific clinical syndromes associated with hypertension is crucial for accurate diagnosis.
Observation:
- A 10-month-old infant presented with significant hypertension and hypokalemia.
- Extensive investigations were performed to rule out secondary causes of hypertension.
- The infant showed a positive therapeutic response to amiloride treatment.
Findings:
- The clinical presentation and biochemical data, along with the response to amiloride, were consistent with Liddle's syndrome.
- Liddle's syndrome, a monogenic form of hypertension, was diagnosed in this infant.
- This diagnosis was confirmed after excluding other identifiable causes of hypertension.
Implications:
- This case underscores the importance of considering rare genetic disorders like Liddle's syndrome in pediatric hypertension.
- Timely diagnosis of monogenic hypertension can guide targeted therapy and improve patient outcomes.
- Further research into the genetic basis and management of pediatric hypertension is warranted.
Abstract:
Hypertension in paediatric age group is commonly secondary to a known cause. It is crucial to identify the cause of hypertension and treat it before development of any associated complications to prevent morbidity and mortality. Paediatric Hypertension is one of the important clinical finding in a child with certain clinical syndrome. We are presenting a case of a 10 month old child presenting with hypertension and hypokalaemia, after excluding all identifiable causes and her positive response to therapy, that is amiloride, along with supportive biochemical data she was diagnosed as a case of monogenic type of hypertension known as Liddle's syndrome.
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