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Antenatal Bartter Syndrome: A Case Report
1Dr Mahboba Akther, Resident Phase-B, Department of Neonatology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh.
Insights
Bartter syndrome, a genetic kidney disorder, causes electrolyte imbalances and failure to thrive in infants. Early diagnosis and treatment are crucial to prevent potential renal failure.
Area of Science:
- Nephrology
- Pediatrics
- Genetics
Background:
- Bartter syndrome is an autosomal recessive disorder affecting sodium-potassium-chloride transport in the renal tubules.
- It commonly presents in children and infants with polyuria, dehydration, and electrolyte disturbances.
Observation:
- A 6-day-old male infant presented with prematurity, low birth weight, and subsequent failure to thrive.
- Laboratory findings included hyponatremia, hypochloremic metabolic alkalosis, and severe hypokalemia.
Findings:
- The infant's clinical presentation and laboratory results, characterized by renal chloride wasting, hyponatremia, hypokalemia, metabolic alkalosis, and normal blood pressure with elevated renin and aldosterone, were consistent with Bartter syndrome.
- This case highlights the diagnostic challenges and clinical manifestations of Bartter syndrome in a neonate.
Implications:
- Prompt diagnosis and management of Bartter syndrome are essential for improving patient outcomes.
- Molecular genetic studies are recommended to identify the specific genetic defect and guide personalized treatment strategies.
- Understanding the pathophysiology of Bartter syndrome aids in managing electrolyte imbalances and preventing long-term complications like renal failure.
Abstract:
Bartter syndrome is an autosomal recessive disorder manifested by a defect in sodium-potassium-chloride transport in the thick ascending limb of Henle with different genetic origins and molecular pathophysiology. Bartter syndrome usually a common disease in children and in early infancy presented with persistent polyuria and associated with dehydration, electrolyte imbalance, and failure to thrive. Though prompt diagnosis and proper treatment of Bartter syndrome may improve the outcome, some children will progress to renal failure. We report a case of a 6 days-old male infant who was admitted in Neonatal Intensive Care Unit, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh on 26 April 2018 for prematurity and low birth weight. On subsequent follow up he developed electrolyte imbalance and failure to thrive. Laboratory studies revealed hyponatremia, hypochloremic metabolic alkalosis with severe hypokalemia. When excessive chloride losses appear to be renal in origin and the patient has normal blood pressure and high levels of serum renin and aldosterone were considered as Bartter syndrome. Molecular genetic studies are indicated to identify the primary genetic defect.
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