An Unusual Presentation of Failure to Thrive in a Toddler: Bartter Syndrome
Akshai R1, Sakshi Upendra Bhatia1, Kishore Narayan1
1Paediatrics, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Insights
This case report highlights a rare instance of Bartter syndrome in a toddler, emphasizing prompt diagnosis for failure to thrive. Early intervention with medication and supplements is crucial for managing this genetic kidney disorder.
Area of Science:
- Pediatric Nephrology
- Genetics
- Rare Diseases
Background:
- Bartter syndrome is a rare autosomal-recessive salt-wasting renal tubular disorder.
- Antenatal forms (Types I, II, IV) are more severe than classic Bartter syndrome (Type III).
- Early diagnosis and management are critical for favorable outcomes.
Abstract:
Bartter syndrome is a rare salt-wasting renal tubular disorder of autosomal-recessive inheritance. Antenatal Bartter syndrome (types I, II, and IV) manifests in infancy and has a more severe course compared to the classic Bartter syndrome (type III). This report details a unique instance of a male toddler, aged 18 months, who presented with failure to thrive, polydipsia, and polyuria. Blood gases revealed hypochloremic metabolic alkalosis with hyponatremia and hypokalemia. The diagnosis was confirmed by genetic testing, and the child was started on indomethacin and potassium supplementation. Despite being rare in children, this case report emphasizes the importance of looking beyond the usual in a child who presents with failure to thrive to prevent a delay in the diagnosis and treatment.
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