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Apparent mineralocorticoid excess: time of manifestation and complications despite treatment

Noël B B Knops1, Leo A Monnens, Jacques W Lenders

  • 1Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium. noel.knops@uz.kuleuven.ac.be

Pediatrics
|May 4, 2011
PubMed

Insights

Apparent mineralocorticoid excess (AME) can manifest later in childhood, presenting with hypertension and hypokalemia. Early AME diagnosis and treatment are crucial, as this condition may increase stroke risk even in young adults.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Apparent mineralocorticoid excess (AME) is a rare genetic disorder characterized by hypertension and hypokalemia.
  • Genetic mutations in the HSD11B2 gene are the primary cause of AME.
  • Family history is a significant factor in identifying at-risk individuals.

Observation:

  • A female patient with a family history of AME presented with delayed onset of symptoms at 11 months.
  • Symptoms included anorexia, failure to thrive, hypertension, hypokalemia, and metabolic alkalosis.
  • Diagnosis was confirmed via HSD11B2 gene mutation analysis (C1228T).

Findings:

  • Treatment with amiloride and furosemide normalized blood pressure and electrolyte imbalances.
  • The patient experienced an unexpected stroke at 19 years of age, with no identifiable conventional risk factors.
  • This case highlights potential delayed manifestations and long-term complications of AME.

Implications:

  • Discusses mechanisms for delayed AME symptom onset and proposes explanations for stroke risk.
  • Recommends mineralocorticoid receptor antagonists for managing AME and reducing stroke risk.
  • Emphasizes the importance of long-term monitoring for cardiovascular events in AME patients.

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