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Liddle syndrome: A case report.

Yueping Jin1, Wei Qiu1, Jianping Yao1

  • 1Department of Endocrinology, Huzhou Central Hospital, Affiliated Central Hospital Huzhou University, Huzhou Hospital Affiliated to Medical College of Zhejiang University, Huzhou City, Zhejiang Province, China.

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|June 20, 2021
PubMed
Summary
This summary is machine-generated.

Liddle syndrome, a genetic hypertension disorder, was diagnosed in a teen misdiagnosed with primary aldosteronism. Genetic testing confirmed the rare condition, and amiloride treatment normalized blood pressure and potassium levels.

Keywords:
HipertensiónHipocalemiaHypertensionHypokalaemiaLiddle syndromeSCNN1BSíndrome de Liddle

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Area of Science:

  • Nephrology
  • Genetics
  • Endocrinology

Background:

  • Liddle syndrome is a rare autosomal dominant genetic disorder.
  • It presents with early-onset hypertension and hypokalemia.
  • Early diagnosis and treatment with epithelial sodium channel (ENaC) blockers are crucial.

Purpose of the Study:

  • To report an atypical case of Liddle syndrome in a 17-year-old male.
  • To highlight the importance of genetic analysis in diagnosing Liddle syndrome.
  • To demonstrate the efficacy of amiloride in managing Liddle syndrome.

Main Methods:

  • Case report of a 17-year-old male with hypertension and hypokalemia.
  • Diagnostic tests included Captopril inhibition and postural stimulation tests.
  • Genetic analysis identified an SCNN1B p.Pro617Ser mutation, confirming Liddle syndrome.

Main Results:

  • The patient was initially misdiagnosed with primary aldosteronism due to low renin and high aldosterone.
  • Genetic analysis revealed a specific SCNN1B mutation, leading to a Liddle syndrome diagnosis.
  • Treatment with amiloride normalized blood pressure (120-135/70-80mmHg) and serum potassium (3.6-4.0mmol/L).

Conclusions:

  • This case underscores that Liddle syndrome can present atypically.
  • Genetic analysis is indispensable for accurate Liddle syndrome diagnosis.
  • Amiloride effectively manages hypertension and hypokalemia in Liddle syndrome patients.