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Classic Bartter syndrome: a rare cause of failure to thrive in a child

Helena Vieira1, Leonor Mendes, Patricia Mendes

  • 1Paediatric Nephrology Unit, Hospital de Santa Maria, Lisboa, Portugal. hrvieira@gmail.com

BMJ Case Reports
|June 30, 2012
PubMed

Insights

Bartter syndrome, a rare genetic disorder affecting kidney salt transport, can cause failure to thrive in infants. Early diagnosis and treatment with potassium chloride and indomethacin significantly improve infant outcomes.

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics

Background:

  • Bartter syndrome encompasses rare autosomal-recessive disorders stemming from defects in renal distal tubule sodium and chloride transport.
  • Diagnosis is typically suspected through blood gas and plasma electrolyte analysis, with genetic studies providing definitive confirmation.

Observation:

  • The case involved an 11-month-old infant presenting with failure to thrive and severe regurgitation.
  • Clinical presentation included hypochloraemic metabolic alkalosis, hyponatraemia, and hypokalaemia, with normal blood pressure and documented polyuria.

Findings:

  • Treatment with potassium chloride supplementation and indomethacin led to clinical improvement.
  • Normalization of plasma potassium and bicarbonate levels was observed post-treatment.
  • Molecular studies confirmed the classic form of Bartter syndrome.

Implications:

  • Bartter syndrome, though rare, should be considered in pediatric cases of failure to thrive with characteristic electrolyte imbalances.
  • Timely diagnosis and intervention are crucial for improving prognosis in affected children.
  • Awareness of this condition can prevent delayed diagnosis and unnecessary investigations.

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