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Challenges of Diagnosing Pseudohypoaldosteronism (PHA) in an Infant

Ghufran Saeed Babar1, Minah Tariq2

  • 1Children's Mercy Hospital and Clinics Endocrinology, 3101 Broadway Blvd, Kansas, Missouri 64111, USA.

Case Reports in Endocrinology
|July 21, 2022
PubMed

Insights

Pseudohypoaldosteronism (PHA) in infants can cause severe electrolyte imbalances like hyperkalemia and hyponatremia. This case highlights diagnostic challenges and the importance of genetic testing for WNK1 variants.

Area of Science:

  • Pediatric Endocrinology
  • Nephrology
  • Genetics

Background:

  • Pseudohypoaldosteronism (PHA) is a condition of renal tubular resistance to aldosterone.
  • It commonly presents with hyperkalemia and hyponatremia in infants.
  • Diagnostic challenges can arise due to the severity of electrolyte disturbances.

Observation:

  • A 5-week-old male infant presented with emesis, lethargy, and feeding difficulties.
  • He exhibited severe electrolyte abnormalities including hyponatremia, hyperkalemia, hypochloremia, and hypercalcemia.
  • Initial treatment involved intravenous fluids and sodium chloride supplementation.

Findings:

  • The infant was found to have heterozygosity for a WNK1 gene variant, typically associated with Gordon syndrome.
  • Despite the genetic finding, the patient maintained normal blood pressure.
  • Electrolyte imbalances resolved spontaneously over several months without ongoing treatment.

Implications:

  • This case underscores the varied presentations of pseudohypoaldosteronism in infants.
  • It emphasizes the importance of considering PHA in infants with unexplained electrolyte disturbances.
  • The spontaneous resolution suggests potential for varied clinical trajectories in WNK1-related disorders.

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