Childhood Bartter's syndrome: An Indian case series

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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

K Sampathkumar1, U Muralidharan, A Kannan

  • 1Department of Nephrology, Meenakshi Mission Hospital and Research Centre, Madurai - 625 107, India.

Indian Journal of Nephrology
|January 6, 2011
PubMed

Insights

Early diagnosis of Bartter

Area of Science:

  • Pediatric Nephrology
  • Endocrinology
  • Genetics

Background:

  • Bartter's syndrome (BS) is a rare inherited renal tubulopathy.
  • It is characterized by salt wasting, leading to electrolyte imbalances.
  • Early diagnosis and management are crucial for affected children.

Observation:

  • A retrospective analysis identified seven pediatric cases of Bartter's syndrome.
  • Presenting symptoms included failure to thrive, vomiting, polyuria, and dehydration.
  • All patients were normotensive with significant electrolyte abnormalities.

Findings:

  • Children presented with metabolic alkalosis, hypokalemia, hypochloremia, and hyponatremia.
  • Elevated serum renin and aldosterone levels confirmed the diagnosis.
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) like indomethacin and ibuprofen showed significant therapeutic benefits.

Implications:

  • A high index of suspicion is vital for diagnosing Bartter's syndrome in infants with failure to thrive.
  • NSAID therapy can markedly improve the clinical condition and well-being of affected children.
  • This study highlights the importance of recognizing and managing BS in pediatric populations.

Keywords:
Bartter’s syndromechildhoodindomethacinmetabolic alkalosis

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