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Neonatal Bartter syndrome.

Jai Parkash1, Muhammad Sohail Salat, Iqtidar A Khan

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

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|August 11, 2006
PubMed
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This case report details an extreme form of Bartter's syndrome in a preterm infant presenting with severe electrolyte imbalances and respiratory distress. Early diagnosis and treatment with indomethacin led to electrolyte correction, highlighting a rare neonatal variant.

Area of Science:

  • Neonatology
  • Pediatric Nephrology
  • Medical Genetics

Background:

  • Bartter's syndrome is a rare genetic disorder affecting kidney salt reabsorption.
  • Neonatal presentation often involves severe electrolyte disturbances and failure to thrive.
  • Polyhydramnios can be an antenatal indicator of fetal kidney abnormalities.

Observation:

  • A preterm infant presented with respiratory distress, hyponatremia, hypokalemia, and hypochloremic metabolic alkalosis.
  • Dehydration and persistent electrolyte imbalance prompted consideration of Bartter's syndrome.
  • Elevated renin and aldosterone levels supported the diagnosis.

Findings:

  • The infant received treatment for dehydration and electrolyte correction.
  • Indomethacin was administered and well-tolerated.

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  • Successful correction of electrolyte imbalances was observed post-treatment.

    • Implications:

    • This case highlights an extreme, early-onset form of Bartter's syndrome.
    • It underscores the importance of recognizing antenatal and neonatal variants of Bartter's syndrome.
    • Pediatricians should consider Bartter's syndrome in neonates with unexplained electrolyte abnormalities and respiratory distress.