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Liddle's Syndrome.

Danish Abdul Aziz1, Fozia Memon1, Arshalooz Rahman1

  • 1Department of Paediatrics, Aga Khan University Hospital Karachi, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC
|June 7, 2017
PubMed
Summary
This summary is machine-generated.

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.

Keywords:
Epithelial sodium channel (ENaC)HypokalemiaPaediatric Hypertension; Liddle’s SyndromePlasma Renin Activity (PRA)Potassium sparing diuretics

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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.